Severe combined immunodeficiency: A cohort of 40 patients

Severe Combined Immunodeficiency (SCID) consists of a heterogeneous group of genetic disorders characterized by an arrest in T lymphocyte development which is variably associated with an abnormal differentiation of B and NK cells. In order to depict the clinical state of Iranian patients with SCID, records of forty patients were reviewed. Patients were classified based on the flow cytometry data in two groups of B− and B+. In thirty two families (80%) parents were consanguine and in 17 families (50%) there were affected members other than proband. We showed that autosomal forms of SCID might be more frequent due to higher rate of consanguineous marriages. Alongside several infective complications, complicated Bacillus Calmette-Guérin (BCG) vaccination was documented in 18 cases (45%) following the routine vaccination at birth. BCG immunization is still a part of standard vaccination for newborns in developing countries; whereas in communities with a better health condition it could be held for a few months and performed for kids whose immune system sounds intact. We discuss where consanguine mating is common, a test of screening should be run timely. A complete blood count of cord blood could reveal lymphocytopenia at birth; this helps early diagnosis. Genetic consultation would help the families with affected members preventing new SCID offspring.     

The effect of oral evening primrose oil on menopausal hot flashes: a randomized clinical trial

Purpose

Hot flashes are common experience for menopausal women, and for many, are severe enough to significantly compromise their overall sense of well being and quality of life. The aim of this study was to compare the efficacy of evening primrose with placebo in improvement of menopausal hot flashes.

Methods

In a 6-week randomized clinical trial, a total of 56 menopausal women aged 45–59 years were participated in this study. The patients were asked for their hot flashes characteristics and responded to HFRDIS (hot flash related daily interference scale) questionnaire before and after the intervention. The participants were randomly assigned to take two capsules per day (totally 90 capsules for 6 weeks) of placebo or evening primrose (500 mg) for continuous 6 weeks. Then, the improvement in hot flashes was compared between two groups.

Results

The percent of improvement in hot flash frequency, severity and duration were 39, 42 and 19 %, in evening primrose group compared with 32, 32 and 18 % in placebo group, respectively. Although all three characters of hot flash was ameliorated in evening primrose arm, only its severity was significantly better in this arm compared with placebo group (P < 0.05). All HFRDIS score were significantly improved in two groups, but the percentage of improvement in social activities, relations with others, and sexuality was significantly superior to placebo group (P < 0.05).

Conclusions

The application of oral evening primrose oil compared with placebo for controlling hot flashes may decrease more the intensity of attacks as well as ameliorating the HFRDIS score.     

Frequency of Genotype With ΔF508 Mutation in CFTR Gene Among Iranian Cystic Fibrosis Patients With Pancreatic Insufficiency

Background:

Cystic fibrosis (CF) is the most prevalent lethal autosomal recessive disease with a broad spectrum of phenotypes. Mutation of ΔF508 in the CFTR gene is the most important and lethal mutation in CF, which contains 70% of all predisposing mutations for CF worldwide.

Objectives:

Determining frequency of genotypes with ΔF508 mutation in CFTR gene, and evaluation of correlation between genotype and phenotype of Iranian patients with CF.

Patients and Methods:

Thirty six patients were included in this cross sectional study. ΔF508 mutations in both alleles of the CFTR gene were checked.

Results:

Among 36 pediatric patients, ΔF508 mutation was detected in 9 (25%) patients; 2 patients were heterozygous, and 7 patients homozygous for this mutation. From overall 72 tracked alleles, 11 (15.2%) were found to have ΔF508 mutations. Differences in prevalence of dyspnea and bronchiectasis were significant in homozygote group, compared with non-mutated group for ΔF508.

Conclusions:

It seems that more ΔF508 mutated alleles lead to more severe symptoms of CF.     

Ethambutol Neuroretinopathy

Objective: To describe the clinical features of ethambutol neuroretinopathy. Design: Case report and meta-analysis of the literature. Participants: A patient with clinical and electrophysiological findings suggestive of ethambutol neuroretinopathy. Testing: Electroretinogram, electro-oculogram and visual fields. Main outcome measure: Clinical and electrophysiological findings. Results: 101 cases were reviewed, retinal findings include retinal pigment epithelial changes, macular edema, flame-shaped hemorrhages. Electroretinogram findings include decreased amplitude and abnormal wave pattern in full field ERG, multifocal or pattern ERG and electro-oculogram findings include abnormal Arden ratio. Conclusions: Clinical, electrophysiological and in vitro studies support the toxic effect of ethambutol on the retina. Therefore ethambutol ocular toxicity may be a neuroretinopathy.     

A single center 14 years study of infectious complications leading to hospitalization of patients with primary antibody deficiencies

Primary antibody deficiencies (PADs) are a heterogeneous group of disorders, characterized by hypogammaglobulinemia and increased susceptibility to bacterial infections, leading to hospitalizations. This study was performed to determine the main infectious causes of hospital admissions in selective Iranian patients with PADs. Forty patients with PADs, who were admitted to the Infectious Ward of Children's Medical Center Hospital during a 14-year period, were reviewed in this study. There were 115 documented episodes of hospital admission during a 14-year period. The average length of hospital stay was 33.30 ± 25.72 days. Pneumonia was the most prominent infection leading to hospitalization among these patients (n = 48), followed by gastroenteritis (n = 23). Other less frequent causes of hospitalization were fever and neutropenia, septic arthritis, encephalitis, orbital cellulitis, sepsis, urinary tract infection, meningitis, oral ulcer, and lung abscess. The most common causative organisms of diarrhea were: Giardia lamblia, followed by Candida albicans, and Salmonella sp. Many patients with PADs suffer from repeated infections leading to hospitalization, in spite of immunoglobulin replacement therapy. Respiratory tract infections were the prominent cause of hospitalization among studied patients, followed by gastrointestinal infections.     

Self-management programs conducted within a practice setting: Who participates,who benefits and what can be learned?

Objective

To investigate the impact of generic and diabetes-specific self-management programs offered in a real world context.

Methods

A quasi-experimental design with 12-week follow-up compared Living with a Chronic Condition and Living with Diabetes. Self-report data collected included: Self-management Knowledge and Skills; Health Related Quality of Life (HRQOL); Depression; Social Isolation; Loneliness; Self-efficacy; and Health Behaviours.

Results

Participants (N = 458) in the two programs differed on almost all baseline measures. Both demonstrated statistically significant improvements in Self-management Knowledge and Skills, as well as reductions in depression. In addition to younger age, low HRQOL, high self-efficacy and Positive and Active Engagement in Life, were the clinical factors most likely to lead to improvements in HRQOL and self-efficacy. Changes in different characteristics predicted different outcomes.

Conclusion

Both generic and disease-specific programs led to improved outcomes, despite the two programs attracting significantly different participants. Referral patterns also differed but GP referral rates were low for both.

Practice implications

Positive participant outcomes can be achieved in real life clinical settings. While younger people with a positive attitude may appear to gain more, it is important to encourage people from low socio-economic status to enter these programs so that social inequalities in health are not worsened.     

Associations Between Coerced Anal Sex and Psychopathology,Marital Distress and Non-Sexual Violence

BackgroundThere is a dearth of scientific data on anal intercourse in heterosexual relationships. Likewise, anal sex within marital relationships has yet to be fully explored.ObjectivesAmong a representative sample of married women in the Iranian capital, Tehran, we aimed to determine the association of self-reported coerced anal sex with: (i) self-reported coerced vaginal sex; (ii) self-reported non-sexual violence; (iii) psychopathology; and (iv) marital attitude.MethodThe data presented here were obtained from the Family Violence Survey conducted in Tehran in 2007. A total of 230 married Iranian women were selected via a multi-cluster sampling method from four different randomized regions. The subjects' sociodemographic data, psychological distress (Symptom Check List; SCL-90-R), personality, and relationship characteristics (Personal and Relationships Profile), and marital attitude (Marital Attitude Survey) were gathered. In addition, the participants' self-reported histories of lifetime victimization through all types of violence by the husband, including coerced anal and vaginal sex as well as psychological and physical assault (Conflict Tactic Scales-Revised; CTS-2), were collected.ResultsThere were associations between self-reported victimization through coerced anal and vaginal sex (P < 0.001), psychological (P < 0.001), and physical aggression (P < 0.001). Those reporting to have been forced into anal intercourse cited higher rates of paranoid and psychotic features, jealousy, attribution of problems to one's own behavior, conflict, and male dominance, as well as lower expectations of improvement in one's marital relationship.ConclusionIn marital relationships, women are at a higher risk of coerced anal sex if subjected to other types of sexual or non-sexual violence. Higher rates of psychopathology and poorer marital relationships are also allied to self-reported anal sexual coercion. Mohammadkhani P, Khooshabi KS, Forouzan AS, Azadmehr H, Assari S, and Lankarani MM. Associations between coerced anal sex and psychopathology, marital distress and non-sexual violence. J Sex Med 2009;6:1938–1946.     

Anterior chest wall protrusion as initial presentation of chronic granulomatous disease: a case report

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disease characterized by recurrent life-threatening bacterial and fungal infections. We report a 4-month-old girl with CGD, was firstly presented with an anterior chest wall protrusion because of an aspergillosis mass.     

Severe cutaneous reactions caused by barbiturates in seven Iranian children

Background  The severe adverse cutaneous reactions of erythema multiforme (EM), Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare mucocutaneous diseases associated with significant morbidity and mortality. The most common cause is antiepileptic drugs, particularly carbamazepine and lamotrigine, as well as the barbiturates group (phenobarbital and phenytoin). In this article, we present seven children with severe adverse cutaneous reactions caused by barbiturates.
Case Reports  The age of the affected children was between 2 and 11 years and they all had a history of taking barbiturates. Their symptoms started 1–3 weeks after the initiation of barbiturates, including a prodrome characterized by 2–3 days of malaise, fever, cough and anorexia, after which the skin and mucosal lesions appeared and worsened. The skin lesions varied from rash to large bullae, plus different forms of mucous membrane involvement. The offending drugs (barbiturates) were stopped immediately and care was largely supportive.
Conclusion  As a result of the morbidity and/or mortality associated with EM, SJS and TEN, physicians should keep in mind their differential diagnosis when cutaneous reactions are observed in patients undergoing barbiturate therapy. Furthermore, although TEN and SJS are life-threatening diseases, early detection and appropriate care can lead to a decrease in the incidence of death. The strategies described here seem to be successful and safe because, despite the serious conditions, our patients responded well. All survived.