Bone demineralization in a cohort of Egyptian pediatric liver transplant recipients: Single center pilot study.

Liver transplantation (LT) is the definitive treatment of end-stage liver disease. The long-term survival following LT spurred more interest in improving the quality of life of patients. This was a cohort study that included 23 pediatric liver transplant recipients who underwent LT due to hereditary or metabolic liver diseases. Bone health assessment was performed at their last follow up clinically (anthropometric measures), biochemically and radiologically (Dual Energy X-ray Absorptiometry [DEXA] scans). Poor bone health was defined as z-score <-1. Mean age at LT was 5.77 years (standard deviation [SD] 3.64) and 43% were males. Biliary atresia was the most common cause of end stage liver disease (35%). Mean age at follow up was 14 years (SD 5.48) and mean follow up was 8 years (SD 4.12 years). Eleven patients (48%) had poor bone health (osteopenia 22% and osteoporosis 26%). On univariate analysis, being on steroids at last follow up (odds ratio [OR] 13.2, 95% confidence interval [CI] 1.23-140.67, P = .03), weight at last follow up (OR 0.45, 95% CI 0.20-0.99, P = .04), platelets at last follow up (OR 0.98, 95% CI 0.96-s0.99, P = .02), hemoglobin at last follow up (OR 0.33, 95% CI 0.12-0.89, P = .03) were significantly associated with poor bone health. None of the variables were significant on multivariate analysis. At most recent follow up, 48% of patients demonstrated poor bone health by DEXA scans. More studies are required to evaluate predictors of poor bone health after LT in children.

Reference values for penile and clitoral lengths of healthy term Egyptian newborn infants.

AIM: Examination of the external genital organs is an integral part of the routine physical examination of the newborn. Early recognition of micropenis or clitoromegaly is important as they may be the only obvious manifestation of pituitary or hypothalamic hormonal deficiencies at birth. Studies suggest that differences in penile or clitoral anthropometry may exist between different populations. Therefore, reference values for genital organs dimensions should be available and well known to medical personnel. We aim to establish reference values for the penile length in Egyptian newborn boys and reference values for the clitoral length in Egyptian newborn girls and to define micropenis and clitoromegaly according to Egyptian reference values. METHODS: A total of 500 healthy term newborn boys and 500 healthy term newborn girls were enrolled in the study. Stretched penile length and clitoral length were measured during the first 7 days of postnatal life. Birth weight, length and head circumference were measured and recorded. RESULTS: The mean (±SD) stretched penile length was 3.16 ± 0.41 cm. The mean (±SD) clitoral length was 0.51 ± 0.13. There was no significant correlation between penile or clitoral length, and body weight, length or head circumference. CONCLUSION: Our study provides reference values for normal penile length and clitoral length in Egyptian newborns. Our study suggests that among healthy term Egyptian newborns, penile length of less than 2.13 cm may be considered micropenis and clitoral length of more than 0.83 cm may be considered clitoromegaly.

The validity of the Bayley-Pinneau method in predicting final adult height at the onset of puberty in patients with classic congenital adrenal hyperplasia.

INTRODUCTION: The final adult height (FAH) of patients with congenital adrenal hyperplasia (CAH) is often lower than the predicted adult height (PAH) using the Bayley-Pinneau (B&P) method. The aim of the current work was to test the validity of B&P in predicting FAH from a bone age (BA) measurement performed at onset of puberty. MATERIAL AND ETHODS: This was a retrospective longitudinal observational convenience single-centre study. The study included 54 patients (male and female) with classic CAH, whether salt-wasting (SW) or simple virilising (SV), who had reached FAH. The results of auxological measurements and hormonal data around the time of puberty were retrieved from files. Predicted adult height (PAH) was calculated from a BA taken at onset of puberty and compared with FAH. RESULTS: The median PAH SDS at the onset of puberty (-1.5) was significantly greater than the median FAH SDS (-2.2) (p < 0.001). The median target height SDS (-0.8) was significantly higher than the median FAH SDS (-2.2) (p < 0.001). FAH and FAH SDS were significantly worse in females (150.36 ± 7.23; -2.05 ± 1.13) than in their male counterparts (162.86 ± 3.30; -1.53 ± 0.51) (p value < 0.001; 0.048). In patients with good control, there was no difference between PAH SDS (-1.7) and FAH SDS (-1.5) (p value = 0.37). In patients with poor control (over- or under-treated) FAH SDS (-2.1) was significantly lower than PAH SDS (-1.4) (p value < 0.001). CONCLUSION: The B&P method was able to accurately predict FAH in children with classic CAH, who were medically well controlled (based on 17-hydroxyprogesterone levels), but overestimated it by a significant 0.7 SD in poorly-controlled patients.

Effect of Infant Massage on Salivary Oxytocin Level of Mothers and Infants with Normal and Disordered Bonding.

Maternal-infant bonding is an affective maternal-driven process that occurs primarily to her infant. Prophylactic interventions or treatment of disordered bonding include infant massage. Evidence suggests that oxytocin plays an important role in facilitation of mother-infant bonding. Main objective is to assess the effect of infant massage on salivary oxytocin level of mothers and their infant during postpartum period. And to assess the difference of oxytocin level in normal and disordered maternal-infant bonding. This study is a quasi-experimental study, carried out on 37 pairs of mothers and their infants from second to sixth month postpartum, attending Basateen Gharb primary health care center (PHC) in Albasateen district, Cairo, Egypt. Postpartum Bonding Questionnaire (PBQ) was used to differentiate between mothers with normal and disordered bonding. Pre and post massage salivary samples were taken from mothers and their infants. Tappan's technique of infant massage was used. Results showed that 48.6% (N = 18) of mothers had disordered maternal infant bonding. Mothers and infants with normal bonding showed a positive relationship with their salivary oxytocin level post massage. On the other hand, mothers and infants with disordered bonding showed no change in their salivary oxytocin level post massage. Salivary oxytocin level in male infants has decreased post massage, while oxytocin level in female infants has increased post massage in mothers with normal bonding. We concluded that infant massage increases salivary oxytocin level in mothers and infants with normal bonding and it has no effect on salivary oxytocin level of mothers and infants with disordered bonding.

Stretched penile length and anogenital distance in Egyptian boys aged one month to five years.

BACKGROUND: In children with isolated unilateral undescended testis mechanical anomalies are commonly implicated and a diagnosis of simple hypospadius implies that the rest of the external genitalia are normal. Patients with disorders of sexual development, by contrast, have other associated genital anomalies including micropenis and should be referred to the endocrinologist for hormonal assessment before surgical correction of undescended testis or hypospadius. Early diagnosis of abnormal penile size is important but proper assessment begins with defining the normal population-specific age-appropriate reference range. Anogenital distance (AGD) reflects prenatal and early postnatal testosterone levels. OBJECTIVE: The aim of our study was to establish mean reference values and percentile curves for strtetched penile length (SPL) and AGD in healthy Egyptian males from the age of one month to five years and to determine the mean monthly increase in SPL and AGDs from 1 to 13 months of age (a reflection of mini-puberty). STUDY DESIGN: This was a descriptive cross-sectional study conducted in Cairo University and Mataria Hosptals, Egypt to determine SPL and AGD in 2972 Egyptian males aged from one month to five years from October 2016-December 2018. In addition, we measured length/height, weight and body mass index. RESULTS: SPL increased gradually from a mean ± SD of 3.55 ± 0.51 cm in the first year of life to 5.52 ± 0.67 cm by five years of age with a growth from 1 to 12 months of life of 0.6 cm. SPL showed smaller values in infants 6-9 months old compared to younger infants. AGD increased from 7.48 ± 1.47 cm in the first year of life to 12.83 ± 0.58 cm by 5 years of age with a growth from 1 to 12 months of 4.34 cm. SPL and AGD Z-scores correlated positively with each other and with age (months), and Z-scores of height/length, weight and BMI (p < 0.001). DISCUSSION: The rapid increases in SPL and AGD observed in our study group in the first few months of life reflect the effects of mini-puberty. The fact that SPL and AGD correlated positively with other anthropometric measurements suggests that SPL and AGD may be controlled by nutritional and/or hormonal factors. We suggest that waning testosterone levels marking the end of minipuberty might explain smaller values for SPL in our group of 6-9 month old infants compared with younger infants. LIMITATION: We have not included children under one month old. CONCLUSION: It is important for each country to develop its own national percentile curves for all growth parameters. This will allow the physician to identify normal differences in the population and to pick up disorders at an age when intervention may yield better results We have developed percentile curves for SPL and AGD that can be used as references for Egyptian male infants and young children.

Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.

Objectives Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder caused by defects in the CYP21A2 gene. We aimed to determine the prevalence of the most commonly reported mutations among 21-OHD Egyptian patients and correlate genotype with phenotype. Methods Molecular analysis of the CYP21A2 gene was performed for the detection of the six most common point mutations (p.P30L, p.I172N, p.V281L, p.Q318X, the splice site mutation Int2 [IVS2-13A/C>G], and the cluster of three mutations [p.I236N, p.V237E, and p.M239K] designed as CL6). Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was performed on 47 unrelated Egyptian 21α-OH deficiency patients and their available parents to detect the presence of the six most common point mutations. Results Screening for the six most common point mutations in CYP21A2 gene, revealed mutations in 87.2% (82/94) of the studied alleles corresponding to 47 Egyptian patients. The most common mutation among the studied cases was IVS2-13C/A>G that was found to be presented in a frequency of 46.8% (44/94). The genotype/phenotype correlations related to null, A, and B groups were with PPV of 100, 55.5, and 83.3%, respectively. Conclusions The described method diagnosed CAH in 80.8% of the studied patients. Good correlation between genotype and phenotype in salt wasting and simple virilizing forms is determined, whereas little concordance is seen in nonclassical one. Furthermore, studying the carrier frequency of 21-OHD among the normal population is of great importance.

Assessment of health-related quality of life in Egyptian children and adolescents with congenital adrenal hyperplasia.

Background Congenital adrenal hyperplasia (CAH) is a chronic disorder causing adrenal insufficiency and hyperandrogenism affecting the quality of life (QOL). The objective of the study was to assess the health-related QOL (HRQOL) in Egyptian children and adolescents with CAH and to identify factors affecting it. Methods This cross-sectional study included 200 CAH patients (with 21-hydroxylase deficiency [21-OHD]) who were assessed according to their age, sex, clinical phenotype, timing of genitoplasty, hospital admissions within the last year, compliance to treatment, regularity of follow-up, presence of complications and hormonal control. HRQOL was assessed using the World Health Organization (WHO)QOL-BREF questionnaire with four domains analyzed independently including physical, psychological, social and environmental domains, with higher scores indicating better QOL. Results The study included 140 females and 60 males with a mean age of 6.6 ± 4.5 years, and 88% were salt-wasting (SW). Older patients had significantly lower QOL scores (r = - 0.151, p = 0.033). The physical domain correlated significantly with the degree of virilization (r = - 0.491, p = 0.001) and frequency of hospitalization (r = - 0.495, p < 0.001). The psychological domain was affected by age (r = - 0.157, p = 0.026) and timing of genitoplasty (r = - 0.326, p = 0.001), while the social domain was affected by age (r = -0.277, p < 0.005) and pubertal stage (r = - 0.195, p = 0.006). Females had lower scores at the psychological domain (p < 0.001), whereas males had lower scores at the physical domain (p = 0.003). Salt-losing patients had lower scores at the physical domain (p = 0.001). Patients with good hormonal control had higher scores at the physical domain (p = 0.03). Genitoplasty affected both psychological and social domains (p = 0.003 and 0.01, respectively). Patients with hypertension and hirsutism had lower QOL scores (p < 0.05). Conclusions HRQOL was relatively more affected in CAH patients with older age, poor hormonal control, high frequency of hospital admissions and those who developed complications.

Vitamin D status in diabetic patients (type 2) and its relation to glycemic control & diabetic nephropathy.

BACKGROUND: Vitamin D deficiency appears to be lower in diabetic patients. Vitamin D may affect glycemic control & diabetic nephropathy. AIM: To assess vitamin D level in type 2 diabetic patients and its relation to their glycemic control and development of nephropathy compared to healthy controls. DESIGN: and Setting: Case control study including 82 participants (41 cases and 41 controls) from Family Medicine Clinic, Cairo University Hospitals. METHOD: Participants fulfilling the inclusion criteria were allocated into two groups, diabetes and control groups. History was taken, examination was done, and blood sample was withdrawn for analysis of Vitamin D levels and HBA1C. From the diabetic group only, serum creatinine was assessed and urine sample was collected for microalbuminuria. The results were analyzed using SPSS program version 21. RESULTS: Vitamin D level was lower in the diabetic group compared to control (65.5% and 56.1%). Vitamin D level was inversely proportionate to HbA1c levels in the diabetic patients (p value 0.000 & r -0.482), as well as to the A/C ratio (p value 0.01 & r -0.396). CONCLUSION: Vitamin D level appeared to be lower in diabetic patients and is associated with poor glycemic control & microalbuminuria.

Short-term effects of corticosteroid therapy on cardiac and skeletal muscles in muscular dystrophies.

BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy of childhood. It leads to progressive deterioration in cardiac and skeletal muscles. Corticosteroids are considered an effective therapy. OBJECTIVE: This study aimed to evaluate the role of short-term prednisone therapy in improving left ventricular (LV) systolic function, LV mass (LVM), and motor power in cases of muscular dystrophies. PATIENTS AND METHODS: Twenty-five cases of muscular dystrophy including 17 cases of DMD, 3 cases of Becker muscular dystrophies, and 5 cases of female patients with DMD-like phenotype were included in the study. The diagnosis of 12 patients was confirmed by muscle biopsy with immunohistochemistry; the patients were subjected to motor assessment, measurement of creatine kinase level, and echocardiographic examination before and after prednisone therapy. Transthoracic echocardiographic assessment of the LV systolic function (fractional shortening) was done. Myocardial performance index and LVM were calculated. Intermittent dosage of prednisone was administered 5 mg/kg per day on 2 consecutive days weekly for 3 months. RESULTS: Fractional shortening improved on prednisone therapy (P = 0.009) and LVM increased (P = 0.012); improvement in walking was detected in 77% of the patients, climbing stairs improved in 88.9%, Gower sign improved in 70%, and rising from chair improved in 60%. Prednisone had no effect on the patients with marked motor impairment (on wheelchair). The creatine kinase level was significantly lower after steroid therapy (P = 0.04). CONCLUSIONS: Three months of intermittent prednisone therapy could improve cardiac and skeletal muscle function in congenital muscular dystrophy.

Cryptorchidism in Egyptian neonates.

UNLABELLED: Cryptorchidism is one of the most common genital malformations in newborn males, but its etiology remains largely unknown. The observation of geographical variability in the prevalence of cryptorchidism suggests a role for environmental factors. The aim of this study was to determine the prevalence of this condition among Egyptian neonates. METHODS: The initial study population comprised 1000 neonates recruited from El Galaa maternity teaching hospital. To determine the risk factors for cryptorchidism in Egypt, 40 healthy full term infants were selected randomly during the same time period as a control group. RESULTS: Twenty-nine cases of cryptorchidism per 1000 newborn males were detected, i.e. a frequency of 2.9%; 10 (34.5%) had bilateral cryptorchidism while 19 (65.5%) had a unilateral lesion. Other congenital anomalies were detected in 5 (17.2%) of the cryptorchid newborns. Five factors were significantly associated with higher risk of cryptorchidism: gestational age of 37 weeks or less, birth weight equal to or less than 2.75 kg, cesarean delivery, steroid therapy and twin pregnancy. Using logistic regression, birth weight ≤ 2.75 kg was the only independent factor predicting cryptorchidism, with an odds ratio of 10.3 and 95% confidence interval of 2.9-36.4. CONCLUSION: These results highlight low birth weight as the cardinal risk factor for cryptorchidism. A larger scale multi-centric study is needed to clearly identify all the risk factors for cryptorchidism in Egyptian neonates.