Congenital Skin Rashes in an IVF Baby Progressed to Multisystem Langerhans Cell Histiocytosis with Lung and Bone Involvement: A Case Report and Literature Review.

Langerhans cell histiocytosis is an uncommon proliferative disorder that may influence many organs; so, the clinical presentations vary. Here we describe an 85-day-old female who was born with In vitro fertilization after 10 years of infertility. She referred to us due to severe pulmonary insufficiency and congenital progressive maculopapular rash with desquamation. There were significant cystic changes in chest imaging studies. Further evaluation demonstrated lytic lesions in cranial, femoral, and humorous bones. The skin biopsy verified the diagnosis of LCH. A combination of Vinblastine, VP16, and Dexamethasone regimen was applied for the patient. In the course of the disease, she encountered multiple bilateral pneumothoraxes but didn't respond to tube thoracostomy and chemotherapy management. The patient died due to respiratory failure raised from complications of lung involvement as a multisystem LCH, 29 days later. Pediatricians should pay much more attention to the cutaneous lesions in the neonatal period especially if there is any risk factor for presenting LCH such as IVF. The lesions should be monitored closely owing to a high correlation between skin lesions and MS LCH.

Pulmonary Involvement in Neuromuscular Diseases: A Review.

Neuromuscular diseases (NMDs) affect muscle function directly or indirectly by affecting nerves or neuromuscular junctions. One of the leading causes of death in patients with NMD is respiratory muscle weakness (RMW). Respiratory involvement in patients with NMD can manifest widely, from mild failure that may initially affect only sleep to severe failure that can be life-threatening. Care approaches include arranged and precise clinical follow-ups of signs of sleep-disordered breathing, daytime hypoventilation, coughing, and swallowing disturbances. This manuscript will review the mechanisms and abnormalities of respiratory function in patients with NMD and help optimize NMD management.

The Risk of the Next Child Getting Affected by Chronic Granulomatous Disease in Families with at Least One Autosomal Recessive CGD Child.

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder more common in autosomal recessive (AR) than X-linked in Iran. This study aimed to assess whether having a child with AR-CGD would increase the likelihood of the next child being affected by CGD. Ninety-one families with at least one child affected by AR-CGD entered this study. Out of the 270 children, 128 were affected by AR-CGD. We used a cross tab for the odds ratio (OR) calculation, in which exposure to a previously affected child and the next child's status were evaluated. This study illustrated that the chances of having another child afflicted with AR-CGD are significantly increased if the previous child had AR-CGD (OR=2.77, 95% CI=1.35-5.69).Althoug h AR disorders affect 25% of each pregnancy, we showed that the chance that the next child would be affected by CGD, given that the previous child was affected, is 2.77 times greater than in families with a normal child. It is recommended to warn families with one or more affected children to evaluate the risk of CGD in their subsequent pregnancies with prenatal diagnosis.

Association Between Pet Keeping and Current Asthma Among Adolescents Living in Yazd; Evidence from Global Asthma Network (GAN) 2020 Cross-sectional Study.

BACKGROUND: The relationship between current pet keeping and allergic diseases, including bronchial asthma in adolescents, is controversial. This study was conducted to evaluate these associations among children aged 13-14 years in Yazd. METHODS: This study is part of a multicenter cross-sectional study of the Global Asthma Network (GAN) in Yazd, Iran, in 2020, in which 5141adolescents enrolled. Information on respiratory symptoms and pet-keeping (dog/cat/birds) was obtained by a questionnaire derived from the GAN standard questionnaire. RESULTS: Of 5141 participants who completed the study, 1800 (35%) children kept pets during the last year. Birds were the most common pet kept by adolescents (88%). Severe asthma was more common in bird and cat keepers (P=0.003 and P=0.034, respectively) than dog keepers. Furthermore, there was a statistically significant association between study-defined current asthma and cat keeping, but not bird or dog ownership (P=0.02). Moreover, we found that current any pet-keeping (birds, cats, dogs) was associated with a higher prevalence of asthma-related symptoms, including wheezing, night dry cough, and exercise-induced wheezing in the past year (P=0.002, P=0.000 and P=0.000 respectively). CONCLUSION: Current any pet-keeping is associated with asthma-related symptoms. Additionally, cat keeping had a significant association with study-defined current asthma. The current keeping of birds, as the most common pet in our area, or cat keeping increases the risk of severe asthma in adolescents. Therefore, as an important health tip, this needs to be reminded to families by health care providers.

The Critical Role of Prenatal Genetic Study in Prevention of Primary Immunodeficiency in High-risk Families: The Largest Report of 107 Cases.

This study aims to investigate the role of prenatal diagnosis (PND) in Iranian couples with a previous history of primary immunodeficiency disorders (PIDD) in their family. All referred couples with a family history of PIDD and a tendency for PND were included in this project. Based on gestational age, chorionic villus sampling (CVS) was performed to analyze the molecular defect of the fetus according to the previous gene defect of the affected case in the family. Postnatal confirmation was performed by immunological screening tests. In a total of 100 cases, CVS was not evaluated in 19 patients due to unwillingness (n=5), late prenatal referral (n=7), miscarriage before CVS (n=3), and female fetus with x-linked diseases in previous children (n=4). In the remaining 81 patients, heterozygous and homozygous mutations were found in 33 and 23 cases, respectively. The hemizygous mutation was obtained in 6 and no pathogenic mutations were found in 19 individuals. Postnatal evaluations revealed that a total of 65 babies were healthy, 32 fetuses were aborted (3 cases before CVS, 2 spontaneous abortions of a healthy and as affected fetus in the CVS subgroup, and 27 cases were aborted due to therapeutic causes). One fetus from the heterozygous subgroup was spontaneously aborted with severe combined immunodeficiency (SCID) and one fetus from the homozygous subgroup that was supposed to be healthy was affected by the autosomal dominant-chronic granulomatous disease (AR-CGD). The diagnostic error was 1.2%. PND is highly recommended in families with a history of PID in their previous child to prevent an affected baby being born and to reduce the government, family, and personal burden of these diseases.

The Effect of Synbiotic Supplementation on Growth Parameters in Mild to Moderate FTT Children Aged 2-5 Years.

Synbiotic (probiotic bacteria and prebiotic) has beneficial effects on the gastrointestinal tract. This study was designed to investigate the effect of synbiotic supplementation on the growth of mild to moderate failure to thrive (FTT) children. A randomized, triple-blind, placebo-controlled trial was conducted involving 80 children aged 2-5 years with mild to moderate FTT, who were assigned at random to receive synbiotic supplementation (109 colony-forming units) or placebo for 30 days. The weights, height, and BMI were recorded in a structured diary, and the questionnaires were completed to monitor the numbers of infection episodes, gastrointestinal problems, admission to hospital, and appetite improvement during the study. Sixty-nine children completed the study. There were no differences in the demographic characteristic between the two groups. The mean weight was similar at baseline. After 30 days of intervention, the mean weight of the participants in the synbiotic group increased significantly than those in the placebo group (600 ± 37 vs. 74 ± 32 g/month P 0.000). BMI changes in synbiotic and placebo group were 0.44 and 0.07 kg/m2, and that the differences among the two groups were significant.(P 0.045) Furthermore, the height increment in synbiotic and placebo group was 0.41 and 0.37 cm respectively with no significant difference (P 0.761). Administration of 30-day synbiotic supplementation may significantly improve weight and BMI in Iranian children with mild to moderate FTT, but there is no effect on the height in this study. Further studies should be designed to found out the effect of synbiotic on growth parameters in undernourished and well-nourished children.

The relation of multiple sclerosis with allergy and atopy: a case control study.

Multiple Sclerosis (MS) and Allergy are believed to up regulate T helper cell type 1 (Th1) and T helper cell type 2 (Th2)  responses, respectively. It has been shown that disequilibrium in the ratio of Th1/Th2 activities may increase frequency of one disease and decrease the frequency of the other. The aim of this study was to investigate the relation of MS with allergy and atopy in new diagnosed MS patients. This case-control study was conducted on 40 new diagnosed MS patients and the same number of normal controls. All of the patients were diagnosed (according to McDonald criteria) at most 2 years prior to the study. Demographic data and clinical characteristics of both groups were recorded in a questionnaire. The total IgE and allergen specific IgE in the serum were measured in all the cases. Forty MS patients (female/male: 4.71) with mean age of 30.55±9.5 years and 40 healthy controls entered in this study. History of allergy was observed in 20(50%) of MS patients (including 15 (37.5%) rhinitis, 6 (15%) conjunctivitis, 3 (7.5%) urticaria and eczema, 1 (2.5%) asthma), and 20 (50%) of the controls (including 8 (20%) rhinitis, 4 (10%) conjunctivitis, 7 (17.5%) urticaria and eczema, 1 (2.5%) asthma). The differences between the two groups were not statistically significant. Neither the serum total IgE, nor the frequency of specific IgE against Weed mix, Grass Mix, Tree mix1, Tree mix 2, Dermatophagoides Farinae, Dermatophagoides pteronyssinus and Epidermal and animal proteins mix differed statistically between the two groups. There was also no significant relationship between MS clinical manifestations and allergy prevalence and also between MS and atopy. The results of this study as some other similar studies showed the same prevalence of allergy in MS patients and controls and also demonstrated no relation between MS and atopy.