			Home About us Contact

Other Siblings (other + sibling)

Distribution by Scientific Domains

Medical Sciences	60%

Selected Abstracts

Infant feeding practices of Pakistani mothers in England and Pakistan

JOURNAL OF HUMAN NUTRITION & DIETETICS, Issue 6 2002
T. Sarwar
Abstract Objectives To investigate infant feeding practices followed by Pakistani mothers in Pakistan and in England. To establish if practices conform to current guidelines and to investigate reasons for adherence and nonadherence. Methods Ninety mothers of weaning age children were interviewed; 45 were in England and 45 in Pakistan. A questionnaire available in English and Urdu sought to find out about the methods of milk feeding and weaning used and the advice received, together with general beliefs about weaning. Results Characteristics of the infants in terms of current age, gender distribution, birth order of baby and age of weaning showed no significant differences between the two groups. Thus, differences between the two groups could be attributed to cultural differences rather than any of these factors. Chi-square analysis showed that the initial method of feeding chosen was significantly different (P < 0.001, d.f. = 2) with 73% of mothers in Pakistan breast-feeding compared with 24% in England. Similar proportions of mothers in both groups commenced weaning between 3 and 4 months. Common weaning foods included rice, cereals and eggs with progression to fruit and vegetables and family food in Pakistan, and fruit, vegetables, meat and convenience foods (especially sweet options) in England. Both groups of mothers wanted more information about infant feeding practices. Conclusion Mothers in Pakistan demonstrated more confidence in weaning practices than in England because of experiences with other siblings and advice from relatives. More advice from health professionals was requested and is needed by all mothers in order to improve weaning practices of the infants. [source]

Familial neuroendocrine cell hyperplasia of infancy,,

PEDIATRIC PULMONOLOGY, Issue 8 2010
J. Popler MD
Abstract Background Neuroendocrine cell hyperplasia of infancy (NEHI) is a recently described children's interstitial lung disease (chILD) disorder of unknown etiology. It manifests clinically with tachypnea, retractions, hypoxemia, and crackles. The characteristic radiographic appearance consists of pulmonary hyperexpansion and ground-glass densities on high-resolution computed tomography (HRCT). Lung histology shows hyperplasia of bombesin-immunopositive neuroendocrine cells within distal bronchioles and alveolar ducts without other identifiable lung pathology or developmental anomaly. Methods We describe four families with multiple siblings diagnosed with NEHI. Cases were identified at three pediatric centers. Inclusion criteria included clinical findings consistent with NEHI, lung biopsy confirmation in the index case, and a diagnostic HRCT or biopsy in other siblings. Results Each family had a proband diagnosed with NEHI based upon pathologic review, and at least one additional sibling diagnosed either by pathologic review or HRCT. All patients presented between 2 and 15 months of age. Both male and female children were affected. The majority of the patients underwent both HRCT and lung biopsy. There were no deaths among affected children. No environmental exposures or other potential etiologies were identified as a cause of presenting symptoms. Conclusions The familial occurrence of NEHI suggests the possibility of a genetic etiology for this disorder and highlights the importance of taking a complete family medical history for infants presenting with a suggestive clinical picture. Identification of familial NEHI patients allows for the opportunity to further our understanding of this disorder, its natural history, the phenotypic spectrum, and potential genetic causes. Pediatr. Pulmonol. 2010; 45:749,755. © 2010 Wiley-Liss, Inc. [source]

Proceedings of the 20th Annual Conference of the Japanese Association for Adolescent Psychotherapy, 16 November 2002, Tokyo, Japan

PSYCHIATRY AND CLINICAL NEUROSCIENCES, Issue 5 2003
Article first published online: 28 AUG 200
Inpatient treatment of obsessive,compulsive disorder in a child and adolescent psychiatry ward M. USAMI National Center of Neurology and Psychiatry, Kohnodai Hospital, Chiba, Japan This is a case report of a 13-year-old-boy (2nd grade in junior high school). His father had poor communication; his mother was a very fragile woman. The boy had been overprotected by his parents, as long as he responded to their expectations. He did not have any other siblings. He played well with his friends since he was young, and did not have problems until the 1st term (from April to July) of 1st grade in junior high school. However, in September he started to have difficulties going well with his friends, and going to school. He spent most of his time in his room, and began to repeat checking and hand-washing frequently. Even at midnight, he forced his mother to touch the shutter from outside of the house for many times. He also ritually repeated to touch his mother's body, after he licked his hands, for over an hour. He became violent, when his parents tried to stop him. In April, year X, his parents visited our hospital for the first time. From then, his mother could not tolerate her son's coerciveness any longer. His father explained to the boy that ,your mother has been hospitalized', and she started to live in the next room to the boy's without making any noise. After 3 months he noticed that his mother was not hospitalized, and he got very excited. He was admitted to our hospital with his family and relatives, in October, year X. At the initial stage of hospitalization he showed distrust and doubt towards the therapist and hospital. He had little communication with other boys and did not express his feelings. Therefore, there was a period of time where he seemed to wonder whether he could trust the treatment staff or not. During his interviews with his therapist he repeated only ,I'm okay' and did not show much emotional communication. For the boy, exposing himself was equivalent to showing his vulnerability and incompleteness. Therefore, the therapist considered that he was trying to denying his feelings to avoid this. The therapist set goals for considering his own feelings positively and expressing them appropriately. Also, the therapist carried out behavioral restrictions towards him. He hardly had any emotional communication with the staff, and his peer relationship in the ward was superficial. Therefore, he gradually had difficulty spending his time at the end of December On the following day in which he and the therapist decided to return to his house for the first time, he went out of the ward a few days before without permission. From thereon it was possible for him to share feelings such as hostility and aggression, dependence and kindness with the therapist. The therapist changed his role from an invasive one to a more protective one. Then, his unsociability gradually faded. He also developed good peer relationships with other boys in the ward and began to express himself feeling appropriately. He was also able to establish appropriate relations with his parents at home, and friends of his neighborhood began to have normal peer relationships again. During childhood and adolescence, boys with obsessive,compulsive disorder are known to have features such as poor insight and often involving their mothers. We would like to present this case, through our understanding of dynamic psychiatry throughout his hospitalization, and also on the other therapies that were performed. Psychotherapy with a graduate student that discontinued after only three sessions: Was it enough for this client? N. KATSUKI Sophia University, Tokyo, Japan Introduction: Before and after the psychotherapy, SWT was administrated in this case. Comparing these two drawings, the therapist was provided with some ideas of what kind of internal change had taken place inside this client. Referring to the changes observed, we would like to review the purposes and the ways of the psychotherapy, as well as the adequacy of the limited number of the sessions (vis-a-vis result attained.) Also we will discuss later if any other effective ways could be available within the capacities of the consulting system/the clinic in the university. Case: Ms. S Age 24 years. Problems/appeal: (i) awkwardness in the relationship with the laboratory colleagues; (ii) symptoms of sweating, vomiting and quivering; and (iii) anxiety regarding continuing study and job hunting. Diagnosis: > c/o PTSD. Psychotherapeutic setting: At the therapy room in the clinic, placed at the university, 50 min-session; once a week; paralleled with the medical treatment. Process: (1) Since she was expelled from the study team in the previous year, it has become extremely difficult for her to attend the laboratory (lab) due to the aforementioned symptoms. She had a feeling of being neglected by the others. When the therapist suggested that she compose her mental confusions in the past by attending the therapy room, she seemed to be looking forward to it, although she said that she could remember only a few. (2) She reported that she overdosed on sedatives, as she could not stop irritating. She was getting tough with her family, also she slashed the mattress of her bed with a knife for many times. She complained that people neither understood nor appreciated her properly. and she said that she wanted revenge on the leader of the lab by punishing him one way or other. (3) Looking back the previous session, she said ,I had been mentally mixed up at that time, but I feel that now I can handle myself, as I stopped the medication after consulting the psychiatrist. According to what she said, when she disclosed the occurrences in the lab to her mother, she felt to be understood properly by her mother and felt so relieved. and she also reported that she had been sewing up the mattress which she slashed before, without any reason. She added, " although I don't even know what it means, I feel that this work is so meaningful to me, somehow". Finally, she told that she had already made her mind to cope with the situation by herself from now on, although it might result in a flinch from the real solution. Situations being the above, the session was closed. Swt: By the remarkable changes observed between the two drawings, the meanings of this psychotherapy and its closure to the client would be contemplated. Question of how school counselors should deal with separation attendant on students' graduation: On a case in which the separation was not worked through C. ASAHARA Sophia University, Tokyo, Japan Although time limited relationship is one of the important characteristics in school counseling, the question of separation attendant on it has not been much discussed based on specific cases. This study focuses on the question of separation through looking at a particular case, in which the separation was not worked through, and halfway relationship continued even after the student's graduation and the counselor's resignation. I was a part time school counselor at a junior high school in Tokyo. The client was a 14-year-old female student, who could not go to her classroom, and spent a few hours in a sick bay when she came to school. She was in the final grade and there was only half a year left before graduation when we first met, and we started to see each other within a very loose structure. As her personality was hyper-vigilant and defensive, it took almost 2 months before I could feel that she was nearer. Her graduation was the first occasion of separation. On that occasion, I found that there had been a discrepancy between our expectations; while I took it for granted that our relationship would end with the graduation, she expected to see me even after she graduated, and she actually came up to see me once in a while during the next year. A year later, we faced another occasion of separation, that was my resignation. Although I worried about her, all I have done for her was to hand a leaflet of a counseling office, where I work as a part time counselor. Again I could not refer to her feelings or show any concrete directions such as making a fixed arrangement. After an occasional correspondence for the next 10 months (about 2 years after her graduation), she contacted me at the counseling office asking for a constant counseling. Why could I not deal with both occasions? and how did that affect the client thereafter? There were two occasions of separation. At the time of the client's graduation, I seemed to be enmeshed in the way of separation that is peculiar to the school setting. In general in therapeutic relationship, mourning work between counselor and client is regarded as being quite important. At school, however, separation attendant on graduation is usually taken for granted and mourning work for any personal relationship tends to be neglected. Graduation ceremony is a big event but it is not about mourning over one's personal relationships but separation from school. That may be why I did not appreciate how the client counted on our relationship. At the time of my resignation I was too worried about working through a change from very loose structure which is peculiar to the school setting to a usual therapeutic structure (fees are charged, and time, place are fixed). That is why I did nothing but give her a leaflet. In this way, we never talked about her complex feelings such as sadness or loneliness, which she was supposed to experience on separation. Looking at the aforementioned process from the client's viewpoint, it can be easily imagined that she could not accept the fact of separation just because she graduated. and later, she was forced to be in double-bind situation, in which she was accepted superficially (handed a leaflet), while no concrete possibility was proposed concerning our relationship (she could never see me unless she tries to contact me.) As a result, she was left alone and at a loss whether she could count on me or not. The halfway situation or her suspense was reflected in her letter, in which she appeared to be just chatting at first sight, but between the lines there was something more implying her sufferings. Above discussion suggests that in some case, we should not neglect the mourning work even in a school setting. To whom or how it is done is the next theme we should explore and discuss in the future. For now, we should at least be conscious about the question of separation in school setting. Study of the process of psychotherapy with intervals for months M. TERASHIMA Bunkyo Gakuin University, Tokyo, Japan This is a report on the process of psychotherapy of an adolescent girl who showed manic and depressive state. At the time of a depressed state, she could not go to a college and withdrew into home, and the severe regressive situation was shown. Her therapy began at the age of 20 and she wanted to know what her problem was. The process of treatment went on for 4 years but she stopped coming to sessions for several months because of failure of the therapist. She repeated the same thing twice. After going through these intervals the client began to remember and started to talk about her childhood , suffering abusive force from her father, with vivid impressions. They once were hard for her to accept, but she began to establish the consistent figure of herself from past to present. In this case, it could be thought that the intervals of the sessions had a certain role, with which the client controlled the structure of treatment, instead of an attack against the therapist. Her object relation, which is going to control an object offensively, was reflected in these phenomena. That is, it can be said that the ambivalence about dependency , difficult to depend but desirous of the object , was expressed. Discontinuation of the sessions was the product of the compromise formation brought about the ambivalence of the client, and while continuing to receive this ambivalence in the treatment, the client started to realize discontinuance of her memories and then advanced integration of her self-image. For the young client with conflict to dependence such as her, an interval does not destroy the process of treatment but in some cases it could be considered as a therapeutic element. In the intervals the client could assimilate the matter by herself, that acquired by the sessions. Psychotherapy for a schizoid woman who presented eccentric speech and behaviour M. OGASAWARA Osaka University Graduate School of Medicine, Osaka, Japan Case presentation: A case of a 27-year-old woman at the beginning of therapy. Life history: She had been having a wish for death since she was in kindergarten and she had been feeling strong resistance to do the same as others after school attendance. She had a history of ablutomania from the age of 10,15, but the symptom disappeared naturally. and she said that she had been eliminated from groups that she tried to enter. After graduating a junior college, she changed jobs several times without getting a full-time position. Present history: Scolded by her boy friend for her coming home too late one day, she showed confusion such as excitement, self-injury or terror. She consulted a psychiatrist in a certain general hospital, but she presented there eccentric behaviours such as tense facial expression, stiffness of her whole body, or involuntary movement of limbs. and because she felt on bad terms with the psychiatrist and she had come to cause convulsion attacks in the examination room, she was introduced to our hospital. Every session of this psychotherapy was held once a week and for approximately 60 min at a time. Treatment process: She sometimes presented various eccentric attitudes, for example overturning to the floor with screaming (1), going down on her knees when entrance at the door (5), entering with a knife in her mouth and hitting the wall suddenly (7), stiffening herself just outside the door without entering the examination room (9), taking out a knife abruptly and putting it on her neck (40), exclaiming with convulsion responding to every talk from the therapist (41), or stiffening her face and biting herself in the right forearm suddenly (52). She also repeated self-injuries or convulsion attacks outside of the examination room in the early period of the therapy. Throughout the therapy she showed hypersensitivity for interpersonal relations, anxiety about dependence, terror for self-assertion, and avoidance for confrontation to her emotional problems. Two years and 6 months have passed since the beginning of this therapy. She ceased self-injury approximately 1 year and 6 months before and her sense of obscure terror has been gradually reduced to some extent. Discussion: Her non-verbal wariness and aggression to the therapist made the sessions full of tension and the therapist felt a sense of heaviness every time. In contrast, she could not express aggression verbally to the therapist, and when the therapist tried to identify her aggression she denied it. Her anxiety, that she will be thoroughly counterattacked to self-disintegration if she shows aggression to other persons, seems to be so immeasurably strong that she is compelled to deny her own aggression. Interpretations and confrontations by the therapist make her protective, and occasionally she shows stronger resistance in the shape of denial of her problems or conversion symptoms (astasia, aphonia, or involuntary movements) but she never expresses verbal aggression to the therapist. and the therapist feels much difficulty to share sympathy with her, and she expresses distrust against sympathetic approach of the therapist. However, her obvious disturbance that she expresses when she feels the therapist is not sympathetic shows her desire for sympathy. Thus, because she has both strong distrust and desire for sympathy, she is in a porcupine dilemma, which is characteristic of schizoid patients as to whether to lengthen or to shorten the distance between herself and the therapist. This attitude seems to have been derived from experience she might have had during her babyhood and childhood that she felt terror to be counterattacked and deserted when she showed irritation to her mother. In fact, existence of severe problems of the relationship between herself and her mother in her babyhood and childhood can be guessed from her statement. Although she has been repeating experiences to be excluded from other people, she shows no attitude to construct interpersonal relationship actively. On the contrary, by regarding herself to be a victim or devaluating other persons she externalizes responsibility that she herself should assume essentially. The reason must be that her disintegration anxiety is evoked if she recognizes that she herself has problems; that is, that negative things exist inside of her. Therefore, she seems to be inhibited to get depressive position and obliged to remain mainly in a paranoid,schizoid position. As for the pathological level, she seems to have borderline personality organization because of frequent use of mechanisms to externalize fantastically her inner responsibility. For her high ability to avoid confronting her emotional problems making the most of her verbal ability, every intervention of the therapist is invalidated. So, it seems very difficult for her to recognize her own problems through verbal interpretations or confrontation by the therapist, for the present. In general, it is impossible to confront self problems without containing negative emotions inside of the self, but her ability seemed to be insufficient. So, to point out her problems is considered to be very likely to result in her confusion caused by persecution anxiety. Although the therapy may attain the stage on which verbal interpretation and confrontation work better some day, the therapist is compelled to aim at promoting her ability to hold negative emotion inside of herself for the time being. For the purpose, the therapist is required to endure the situation in which she brings emotion that makes the therapist feel negative counter-transference and her process to experience that the therapeutic relation itself would not collapse by holding negative emotion. On supportive psychotherapy with a male adolescent Y. TERASHIMA Kitasato University Health Care Center, Kanagawa, Japan Adolescent cases sometimes show dramatic improvements as a consequence of psychotherapy. The author describes how psychotherapy can support an adolescent and how theraputic achievements can be made. Two and a half years of treatment sessions with a male adolescent patient are presented. The patient was a 19-year-old man, living with his family. He had 5 years of experience living abroad with his family and he was a preparatory school student when he came to a mental clinic for help. He was suffering from not being able to sleep well, from difficulties concerning keeping his attention on one thing, and from fear of going to distant places. He could barely leave his room, and imagined the consequence of overdosing or jumping out of a window. He claimed that his life was doomed because his family moved from a town that was familiar to him. At the first phase of psychotherapy that lasted for approximately 1 year, the patient seldom responded to the therapist. The patient was basically silent. He told the therapist that the town he lives in now feels cold or that he wants to become a writer. However, these comments were made without any kind of explanation and the therapist felt it very difficult to understand what the patient was trying to say. The sessions continued on a regular basis. However, the therapist felt very useless and fatigued. Problems with the patient and his family were also present at this phase of psychotherapy. He felt unpleasant at home and felt it was useless to expect anything from his parents. These feelings were naturally transferred to the therapist and were interpreted. However, interpretation seemed to make no changes in the forms of the patient's transference. The second phase of psychotherapy began suddenly. The patient kept saying that he did not know what to talk about. However, after a brief comment made by the therapist on the author of the book he was reading, the patient told the therapist that it was unexpected that the therapist knew anything of his favorite writer. After this almost first interaction between the patient and the therapist, the patient started to show dramatic changes. The patient started to bring his favorite rock CDs to sessions where they were played and the patient and the therapist both made comments on how they felt about the music. He also started asking questions concerning the therapist. It seemed that the patient finally started to want to know the therapist. He started communicating. The patient was sometimes silent but that did not last long. The therapist no longer felt so useless and emotional interaction, which never took place in the first phase, now became dominant. The third phase happened rapidly and lasted for approximately 10 months. Conversations on music, art, literature and movies were made possible and the therapist seldom felt difficulties on following the patient's line of thought. He started to go to schools and it was difficult at first but he started adjusting to the environment of his new part-time jobs. By the end of the school year, he was qualified for the entrance to a prestigious university. The patient's problems had vanished except for some sleeping difficulties, and he did not wish to continue the psychotherapy sessions. The therapist's departure from the clinic added to this and the therapy was terminated. The patient at first reminded the therapist of severe psychological disturbances but the patient showed remarkable progress. Three points can be considered to have played important roles in the therapy presented. The first and the most important is the interpretation by behavior. The patient showed strong parental transference to the therapist and this led the therapist to feel useless and to feel fatigue. Content analysis and here-and-now analysis seemed to have played only a small part in the therapy. However, the therapist tried to keep in contact with the patient, although not so elegant, but tried to show that the therapist may not be useless. This was done by maintaining the framework of the therapy and by consulting the parents when it was considered necessary. Second point is the role that the therapist intentionally took as a model or target of introjection. With the help of behavioral interpretation that showed the therapist and others that it may not be useless, the patient started to introject what seemed to be useful to his well being. It can be considered that this role took some part in the patient going out and to adjust to the new environment. Last, fortune of mach must be considered. The patient and the therapist had much in common. It was very fortunate that the therapist knew anything about the patient's favorite writer. The therapist had some experience abroad when he was young. Although it is a matter of luck that the two had things in common, it can be said that the congeniality between the patient and the therapist played an important role in the successful termination of the therapy. From the physical complaint to the verbal appeal of A's recovery process to regain her self-confidence C. ITOKAWA and S. KAZUKAWA Toyama Mental Health Center, Toyama, Japan This is one of the cases at Toyama Mental Health Center about a client here, we will henceforth refer to her simply as ,A'. A was a second grade high school student. We worked with her until her high school graduation using our center's full functions; counseling, medical examination and the course for autogenic training (AT). She started her counseling by telling us that the reason for her frequent absences from school began because of stomach pains when she was under a lot of stress for 2 years of junior high school, from 2nd grade to 3rd grade. Due to a lack of self confidence and a constant fear of the people around her, she was unable to use the transportation. She would spend a large amount of time at the school infirmary because she suffered from self-diagnosed hypochondriac symptoms such as nausea, diarrhea and a palpitation. She continued that she might not be able to have the self-confidence to sit still to consult me on her feelings in one of our sessions. A therapist advised her to take the psychiatric examination and the use of AT and she actually saw the medical doctor. In counseling (sessions), she eventually started to talk about the abuse that started just after her entering of junior high school; she approached the school nurse but was unable to tell her own parents because she did not trust them. In doing so, she lost the rest of her confidence, affecting the way she looked at herself and thought of how others did. At school she behaved cheerfully and teachers often accused her of idleness as they regarded this girl's absences along with her brightly dyed hair and heavy make-up as her negligent laziness. I, as her therapist, contacted some of the school's staff and let them know of her situation in detail. As the scolding from the teachers decreased, we recognized the improvement of her situation. In order to recover from the missed academic exposure due to her long absence, she started to study by herself. In a couple of months her physical condition improved gradually, saying ,These days I have been doing well by myself, haven't I?' and one year later, her improved mental condition enabled her to go up to Tokyo for a concert and furthermore even to enjoy a short part-time job. She continued the session and the medical examination dually (in tangent) including the consultation about disbelief to the teachers, grade promotion, relationships between friends and physical conditions. Her story concentrated on the fact that she had not grown up with sufficiently warm and compassionate treatment and she could not gain any mental refuge in neither her family nor her school, or even her friends. Her prospects for the future had changed from the short-ranged one with no difficulty to the ambitious challenge: she aimed to try for her favorite major and hoped to go out of her prefecture. But she almost had to give up her own plan because the school forced her to change her course as they recommended. (because of the school's opposition with her own choice). So without the trust of the teachers combined with her low self-esteem she almost gave up her hopes and with them her forward momentum. In this situation as the therapist, I showed her great compassion and discussed the anger towards the school authorities, while encouraging this girl by persuading her that she should have enough self-confidence by herself. Through such sessions, she was sure that if she continued studying to improve her own academic ability by herself she could recognize the true meaning of striving forward. and eventually, she received her parents' support who had seemed to be indifferent to her. At last she could pass the university's entrance exams for the school that she had yearned to attend. That girl ,A' visited our center 1 month later to show us her vivid face. I saw a bright smile on her face. It was shining so brightly. [source]

Germline mosaicism in keratitis,ichthyosis,deafness syndrome: pre-natal diagnosis in a familial lethal form

CLINICAL GENETICS, Issue 6 2010
E Sbidian
Sbidian E, Feldmann D, Bengoa J, Fraitag S, Abadie V, de Prost Y, Bodemer C, Hadj-Rabia S. Germline mosaicism in keratitis,ichthyosis,deafness syndrome: pre-natal diagnosis in a familial lethal form. Keratitis,ichthyosis,deafness (KID) syndrome is an autosomal dominant congenital ectodermal defect characterized by the association of skin lesions, hearing loss and keratitis. Most of the cases appear to be sporadic. KID syndrome is mostly related to mutations of GJB2 gene encoding connexin-26. Recently, a lethal form of the disease during the first year of life has been reported in two unrelated Caucasian patients. This rare lethal form is caused by the G45E mutation of GJB2 gene. We here report the first pre-natal molecular genetic diagnosis of the lethal form of KID syndrome relating to a G45E mutation. In the same family, the occurrence of this condition in three other siblings born to African non-consanguineous healthy parents lead to perform pre-natal diagnosis for this last pregnancy. Molecular analysis confirms the diagnosis of the lethal form of KID for the fetus. These results establish the role of germline mosaicism in KID syndrome and warrant careful genetic counseling. Furthermore, analysis of our cases and the literature allowed us to define a characteristic severe neonatal phenotype including facial dysmorphy, severe cornification with massive focal hyperkeratosis of the skin with erythroderma, dystrophic nails, complete atrichia and absence of foreskin. [source]

Advances in the genetics of sarcoidosis

CLINICAL GENETICS, Issue 5 2008
G Smith
Sarcoidosis is an uncommon disease of granulomatous inflammation. Genetic predisposition to sarcoidosis is indicated by observations of familial clustering, increased concordance in monozygotic twins over other siblings, and variations in susceptibility and disease presentation among different ethnic groups. Published studies on sarcoidosis have investigated a variety of genetic associations. These studies used techniques ranging from classic human lymphocyte antigen genotype correlations to genome-wide linkage scans. Results have both supported and refuted disease associations with a number of genes potentially involved in the pathogenesis of sarcoidosis. Here, we review representative studies concerning the genetics of sarcoidosis. While investigations to date have failed to identify a unifying genetic signature associated with sarcoidosis, numerous studies have identified genetic associations with disease subtypes or within specific populations. These studies suggest that genetic susceptibility to sarcoidosis is complex and polygenic in nature. Future studies will help clarify the genetics of sarcoidosis and allow for the development of diagnostic, prognostic and therapeutic technologies. [source]