Clinical and Genetic Characteristics and Outcome in Patients with Neonatal Diabetes Mellitus from a Low Middle-Income Country.

Neonatal Diabetes Mellitus (NDM) is a disorder characterized by persistent, severe hyperglycemia presenting during the first 6 months of life. These disorders are rare and the incidence is approximately 1 in 90,000 live births. To describe the clinical presentation, molecular genetics and outcome of patients with NDM from a single paediatric endocrine center from a low middle income country. A retrospective study was conducted on patients diagnosed with NDM. Medical records were reviewed for demographic data and data on clinical, biochemical and genetic analysis. 96% of patients who underwent mutation analysis had pathogenic genetic mutations on Sanger sequencing. Permanent NDM (PNDM) was diagnosed in 19 patients with 3 of them having a syndromic diagnosis. The commonest mutation was found in KCNJ11 gene. Majority of the PNDM (63%) presented with severe diabetic ketoacidosis. All patients with Transient NDM (TNDM) remitted by 6 months of age. 47% of the cases with PNDM made a switch to sulfonylurea therapy with good glycemic control (glycosylated Haemoglobin A1C 6-7.5). Data from the Sri Lankan cohort is comparable with other populations. The majority of cases are due to KCNJ11 mutations resulting in PNDM.

Effects of Salvinia as a broiler litter material on growth performance, behavior, welfare parameters, litter characters, and ammonia emission.

The type of litter material has direct impacts on production, behavioral, and welfare parameters of broilers. The price of conventionally-used litter materials is increasing. Salvinia molesta is a fast-growing aquatic plant which has become an environmental issue in some areas. This study assessed the suitability of air-dried Salvinia plants (SAL) as an alternate litter material to paddy husk (PH). Resulting in a completely randomized experiment, a total of 240 broilers was raised in 12 floor-pens each provided with either PH or SAL as litter materials, from 11 to 36 d. Scan sampling technique was employed to record the birds' engagement in 15 predetermined behaviors. Foot pad dermatitis (FPD), hock burn damage (HBD) and plumage cleanliness (PC) were assessed using Welfare Quality Scoring System. Litter samples were analyzed for pH, dry matter%, water holding capacity, porosity, N%, tapped-density and ammonia emission rate. The litter material had no significant effect (P > 0.05) on mortality, growth performance parameters, dressing % and visceral organ weight. The scores for FPD and PC were unaffected by the litter materials. SAL litter reported significantly lower (P < 0.05) HBD scores. The percentages of birds engaged in eating and wing flapping behaviors were significantly lower on SAL. Litter type had no significant influence on the color, aroma, flavor, texture and overall acceptability of breast meat. Air-dried Salvinia plants reported acidic pH. SAL litter gave a significantly higher tapped-density. Ammonia emission rate of SAL litter was significantly lower than that of PH. However, the final litter N content was higher for PH (3.7%) than SAL (3.2%). The study proposes air-dried Salvinia plants as a litter material for broilers since it gives growth performance comparable to PH with reduced hock burn damage incidences. Effects of SAL on behavior and the fertilizer value of the spent litter are to be studied further.

A Matter of Time: Delayed Presentation and Rapid Progression from Gonadotropin-Independent to Gonadotropin-Dependent Precocious Puberty following Successful Treatment for a Leydig Cell Tumor.

Leydig cell tumors, most often benign, are a rare cause of isosexual gonadotropin-independent precocious puberty in boys due to secretion of testosterone. Very rarely do these tumors produce estrogen, causing gynecomastia. Testicular sparing surgery is the mainstay of treatment currently although radical orchidectomy was the choice in the past. Following surgery, clinical signs improve along with a revision of biochemical changes. Occasionally, it has been reported few children are progressed to gonadotropin-dependent precocious puberty (GDPP) after initial clinical and biochemical recovery. Gonadotropin receptor analogs have been successful on them to halt the progression of puberty, and growth hormone administration has been used to optimize the adult height. Here, we report a case of a 10-year-old boy who presented very late due to failure in recognition of features of puberty due to a Leydig cell tumor. Even though he underwent successful radical orchidectomy, just within 1 month following surgery, he entered GDPP in contrast to the published cases where it was earliest detected at 3 months.

An infant with 49XXXXY syndrome: a case report.

BACKGROUND: 49XXXXY syndrome is the rarest X chromosome aneuploidy, with approximate incidence of 1:85,000-100,000 male births. Worldwide, around 100 cases have been reported. In this report, we describe one such case seen in Sri Lanka. CASE PRESENTATION: A 10-day-old Sri Lankan neonate born in a tertiary care center was referred to the pediatric endocrinology unit of Lady Ridgeway Hospital due to detection of ambiguous genitalia at birth. He was the first child born to nonconsanguineous healthy parents following an uncomplicated antenatal period. He was born at term via normal vaginal delivery, with a birth weight of 2.385 kg. The baby was active, and there was no documented hypoglycemia or alteration in basic biochemical investigations. On examination, the child had hypertelorism, upslanting palpebral fissures, flat occiput, and mild webbing of the neck. System examination was normal. Genitalia examination revealed bifid scrotum, perineal urethra, 2 cm phallus, and bilateral testis in situ. Hormonal analysis, including dehydroepiandrosterone sulfate, testosterone, and 17-OH progesterone levels, was normal except for an elevated level of follicle-stimulating hormone, indicating gonadal dysgenesis. Ultrasound of the abdomen detected testis located at bilateral inguinal canal, and no Müllerian structures were visible. Echocardiography showed a small patent foramen ovale with otherwise normal heart. Chromosome analysis revealed 49XXXXY syndrome. CONCLUSION: 49XXXXY syndrome should be entertained as a rare possibility for ambiguous genitalia, and karyotyping is an essential investigation for evaluation of such patients.

Vitamin D supplementation in obese Sri Lankan children: a randomized controlled trial.

BACKGROUND: Micronutrient deficiencies are identified among obese individuals. Vitamin D deficiency (VDD) is prevalent in obese children, and is hypothesized to cause insulin resistance and metabolic abnormalities. This study aimed to determine the effect of vitamin D supplementation on obesity and related metabolic abnormalities among obese Sri Lankan children with VDD. METHODS: A triple-blind randomized controlled trial was conducted among vitamin D deficient (< 20 ng/ml), obese children (n = 96), randomly allocated to three intervention arms - treatment arm receiving weekly vitamin D2 50,000 IU; supplementation arm receiving 2500 IU weekly and control arm, receiving placebo. Anthropometry, percentage fat mass (%FM) and blood pressure were assessed and fasting blood glucose, fasting insulin, lipid profile, aspartate transaminase (ALT), alanine transaminase (AST), vitamin D, parathyroid hormone (PTH) and hs-CRP and OGTT with 2-h random blood glucose and insulin was performed at baseline and after 24 weeks of treatment. Ethics Review Committee of Faculty of Medicine, University of Colombo approved the protocol. RESULTS: Waist circumference Z-score, %FM and serum calcium significantly improved across all three arms, ALT significantly improved in treatment and supplementation arms while, BMI Z-score, PTH and vitamin D significantly improved in the treatment arm. Biceps (p = 0.035) and subscapular (0.048) skin fold thickness, vitamin D (p = 0.004) and ALT (p = 0.012) significantly improved in the treatment arm. CONCLUSIONS: A strict dietary and physical activity regimen could improve some of the anthropometric, body composition and metabolic profiles, but high dose vitamin D, enhances those improvements. Therefore high dose vitamin D seems to potentiate management outcomes of obese children with vitamin D deficiency. TRIAL REGISTRATION: The study was registered at the Sri Lanka Clinical Trials Registry (SLCTR/2015/017) on 12th September 2015 at https://slctr.lk/trials/slctr-2015-017 .

Assessment of distance from skin surface to muscle for evaluation of the risk of inadvertent intramuscular insulin injection at potential injection sites among patients attending a tertiary care children's hospital in Sri Lanka-an observational study.

BACKGROUND: Insulin therapy is essential for type 1 diabetes. While a reasonable glycemic control prevents complications, inadvertent intramuscular (IM) insulin injection results in hypoglycemia and fluctuations of blood glucose levels. OBJECTIVE: To assess the subcutaneous thickness (SCt) at the potential insulin injection sites, in order to determine the suitable needle length. METHODS: Diabetic and non-diabetic children (n=125; aged 2-14 years) attending a tertiary care hospital were examined, after excluding those who had skin abnormality at the injection site, were hospitalized for>3 days, or had any other chronic illnesses. Dermal thickness (Dt) and SCt at the potential insulin injection sites were measured with ultrasonography. RESULTS: The mean age of the patients was 8 years and 57% were boys; mean Dt was 2.1±0.4 mm, SCt was 7.45.6±3.7 mm, and maximum SCt was 29.8 mm in the anterior abdominal wall. SCt increased with age and by raising a skin fold (sf). There was no difference (P>0.05) in Dt between genders, and limbs showed thinner Dt values than the abdomen. SCt changed with the injection site: it was the lowest in the thigh and the highest in the abdomen. SCt was thicker in females, with or without sf (P<0.001). For all sites, IM risk was high for 15-mm needles: it was highest in the thighs (98%) and reduced to 86% with sf. IM risk was low for 5-mm needles: it was highest in the thigh (38%), and reduced to 12% with sf. Compared with girls (up to 42%), IM risk was higher for boys (up to 54%), even for 5-mm needles with a sf. CONCLUSION: Using a short needle is recommended for children, particularly for boys. Regardless of the needle length, the raised sf technique is associated with reduced IM risk.

Prevalence of vitamin D deficiency and its association with metabolic derangements among children with obesity.

BACKGROUND: It is known that obesity is associated with vitamin D deficiency and observational studies have shown vitamin D deficiency to be linked with the development of type 2 diabetes. There are no comprehensive data regarding vitamin D deficiency in children with obesity in Sri Lanka and the objective of the study was to assess the prevalence of Vitamin D deficiency and its association with metabolic derangements among children with obesity. METHODOLOGY: Two hundred and two children between 5 and 15 years of age attending the obesity clinic Lady Ridgeway Hospital (LRH) were recruited excluding those having possible secondary causes for obesity. Blood was drawn after 12-h overnight fast for fasting blood glucose(FBG), lipid profile, serum insulin, alanine aminotransferase (ALT),aspartate aminotransferase(AST), Vitamin D, parathyroid hormone(PTH),high sensitivity C reactive protein(hs-CRP). Oral glucose tolerance test (OGTT) was done with 2 h random blood glucose. Anthropometry, blood pressure were measured, and body fat mass was assessed using bio-impedance. RESULTS: Vitamin D deficiency (< 20 ng/ml) was seen in 152(75.2%) children and 43(21.3%) had insufficient (20-30 ng/ml) levels. Skin fold thickness, fasting and post-glucose insulin, HOMA-IR, PTH, LDL, Serum cholesterol and hs-CRP showed statistically significant negative correlations with Vitamin D levels. CONCLUSIONS: Vitamin D deficiency was significantly high in Sri Lankan children with obesity and showed significant negative correlations with indicators of insulin resistance and adiposity.

Assessment of the stretched penile length in Sri Lankan newborns

Introduction: Evaluation of the external genitalia is important in the routine neonatal examination, since abnormalities of the genitalia give clues to underlying endocrine disorders or structural malformations. Objectives: The objectives of the study were to document the stretched penile length (SPL) of healthy term neonates born following an uncomplicated delivery at a tertiary care hospital in Sri Lanka, and to establish the normative data for the SPL for Sri Lankan neonates. Method: This was a cross sectional observational study, carried out at post natal wards of the Castle Street Hospital for Women, Sri Lanka. The study was done on 369 stable newborns delivered at the gestational age of 37 to 42 weeks. A complete neonatal examination was performed by the principal investigator and the measurements of the weight, length, head circumference and stretched penile length were obtained. Mean penile length and statistically significant difference of penile length (SD) values were calculated. The correlation of mean penile length, period of gestation, birth weight and length were analysed. Result: The SPL positively correlated with the length of the baby. There is no statistically significant correlation of birth weight, head circumference and gestational age with the SPL. The mean SPL for term Sri Lankan new-borns was 3.03cm ± 0.37cm and the -2SD value was 2.29cm. Conclusions: Since the -2SD of SPL was 2.29cm, measurements less than this should be considered as micropenis.

Effects of two litter amendments on air NH3 levels in broiler closed-houses.

OBJECTIVE: High NH3 emissions from poultry houses are reported to have negative impacts on health, welfare and safety of birds and humans, and on the environment. Objective of the present study was to determine the effects of two litter amendments on the NH3 levels in broiler closed houses under hot-humid conditions. METHODS: Giving a completely randomize design, nine closed houses, each housed 32,500 birds on paddy husk litter, were randomly allocated into two treatment (Mizuho; a bacterial culture mix and Rydall OE; an enzymatic biocatalyst) and control groups. NH3 levels were determined thrice a day (0600, 1200, and 1800 h), at three heights from the litter surface (30, 90, and 150 cm), at 20 predetermined locations of a house, from day 1 to 41. RESULTS: Rydall significantly reduced the NH3 level compared to control and Mizuho. NH3 levels at 30 cm were significantly higher than that of 90 and 150 cm. The NH3 levels at 30 cm height were higher than 25 ppm level from day 9, 11, and 13 in Mizuho, control, and Rydall groups, respectively to day 41. NH3 levels at 150 cm height were higher than maximum threshold limit of 50 ppm for human exposure from day 12, 14, and 15 in Mizuho, control, and Rydall groups, respectively to day 33. Being significantly different among each other, the NH3 level was highest and lowest at 0600 and 1800 h. Litter amendments had no significant effects on growth performance. Rydall significantly increased the litter N content on day 24. CONCLUSION: It was concluded that the NH3 levels of closed house broiler production facilities under tropical condition are so high that both birds and workers are exposed to above recommended levels during many days of the growing period. Compared to microbial culture, the enzymatic biocatalyst was found to be more effective in reducing NH3 level.

Global Consensus Recommendations on Prevention and Management of Nutritional Rickets

"BACKGROUND: Vitamin D and calcium deficiencies are common worldwide, causing nutritional rickets and osteomalacia, which have a major impact on health, growth, and development of infants, children, and adolescents; the consequences can be lethal or can last into adulthood. The goals of this evidence-based consensus document are to provide health care professionals with guidance for prevention, diagnosis, and management of nutritional rickets and to provide policy makers with a framework to work toward its eradication. EVIDENCE: A systematic literature search examining the definition, diagnosis, treatment, and prevention of nutritional rickets in children was conducted. Evidence-based recommendations were developed using the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system that describes the strength of the recommendation and the quality of supporting evidence. PROCESS: Thirty-three nominated experts in pediatric endocrinology, pediatrics, nutrition, epidemiology, public health, and health economics evaluated the evidence on specific questions within five working groups. The consensus group, representing 11 international scientific organizations, participated in a multiday conference in May 2014 to reach a global evidence-based consensus. RESULTS: This consensus document defines nutritional rickets and its diagnostic criteria and describes the clinical management of rickets and osteomalacia. Risk factors, particularly in mothers and infants, are ranked, and specific prevention recommendations including food fortification and supplementation are offered for both the clinical and public health contexts. CONCLUSION: Rickets, osteomalacia, and vitamin D and calcium deficiencies are preventable global public health problems in infants, children, and adolescents. Implementation of international rickets prevention programs, including supplementation and food fortification, is urgently required."

Phaeochromocytoma presenting with polyuria: an uncommon presentation of a rare tumour.

UNLABELLED: Children rarely present with phaeochromocytoma. Their presentation differs from that of adults. The classic triad of sweating, headache and palpitation may not always present in children with phaeochromocytoma. In this study, we present a 6-year-old girl who came to us with polyuria and polydipsia for evaluation of suspected diabetes insipidus. She gave a clear history of increased sweating in the recent past. On clinical examination, she was noted to have high blood pressure. Subsequent investigations revealed a phaeochromocytoma. Her polyuria and hypertension resolved immediately after the surgery. We did not have the facilities to arrange for genetic tests; however, the patient and the family members are under follow-up for other associated conditions. LEARNING POINTS: Polyuria and polydipsia are rare symptoms of phaeochromocytoma.Complete physical examination prevented unnecessary investigations for polyuria and led to a correct diagnosis.Classic features are not always necessary for diagnostic evaluation of rare diseases.

Comparison of ammonia emission rates from three types of broiler litters.

The objective of this study was to compare the emission of NH(3) from 3 types of broiler litters. Three litter materials (refused tea, RT; sawdust, SDT; and paddy husk, PH) were randomly assigned into 18 cages. Twenty-day-old broiler chicks (n = 216) were randomly allocated into cages and were fed a commercial broiler finisher diet from 21 to 42 d. Three litter samples were taken from each cage on 36 and 42 d. Three subsamples taken from each cage were pooled and analyzed for moisture, pH, and N. Litter samples were incubated for 5 h, and the emitted NH(3) was trapped with boric acid and then titrated with HCl to determine the NH(3) emissions. The emission of NH(3) from RT litter (13.2 mg/kg of litter per h) on d 36 was 61% less than that from SDT and PH. The NH(3) emission rate of RT litter on d 42 (13.0 mg/kg per h) was very similar to that on d 36 (13.2 mg/kg per h). However, emission rates of SDT and PH on d 36 increased by 57.8 and 33%, respectively, when determined on d 42. Emission of NH(3) from RT litter on d 42 (13.0 mg/kg per h) was significantly (P < 0.05) less than that from SDT (54 mg/kg per h) and PH (44 mg/kg per h) litters. When the emission rate was computed as grams of NH(3)/hour/animal unit (AU), the emission rates of RT litter on d 36 (3.4 g/h per AU) and 42 (5.1 g/h per AU) were significantly (P < 0.05) less than that of SDT and PH. The N contents of the RT litter on 36 and 42 d were 6.6 and 6.7%, respectively, and were significantly (P < 0.001) greater than the respective values of SDT and PH. It was concluded that emission of NH(3) from poultry houses could be reduced substantially by using RT as a litter material.

The use of refused tea as litter material for broiler chickens.

A completely randomized design experiment was conducted to determine the suitability of refused tea (RT) as a litter material for broiler chickens. Physiochemical properties of RT were compared with paddy husk (PH). Subsequently, broilers were raised on RT- or PH-based litter to compare the performances and litter qualities. Twenty-day-old broiler chicks (n = 150) were randomly allocated into 6 deep litter pens so that each treatment had 3 replicates. Chicks received 0.8 ft(2) of floor spacing until d 28 and 1.3 ft(2) thereafter. Each cage had a feeder and a drinker. Litter materials and litter samples taken on 28, 35, and 39 d were analyzed for bulk density, moisture, ash, and N. Chick mortality was low (1.3%) and similar on 2 types of litters. Live weights on d 28, 35, 39, and weight gains, feed intakes, dressing percentages, and feed conversion ratios were not affected by the type of litter material. The bulk density, moisture level, and pH of the RT were comparable with PH. Even though the water-holding capacity of PH (213%) was significantly higher (P < 0.01) than RT (70%), the latter material had significantly higher (P < 0.01) water-releasing capacity compared with the former (17.9 vs. 13.6%). Throughout the experiment the RT litter had around 10% units higher moisture level than PH litter. By d 39, the moisture content of the RT litter was (48%) significantly higher (P = 0.05) than PH litter (37%). The N contents of RT litter were higher (P < 0.05) than those of PH on d 28, 35, and 39, being 8.1, 7.8, and 7% and 3.4, 3.6, and 3%, respectively. It was concluded that RT could be successfully used as an alternative litter material for broilers. A higher N content in RT-based spent broiler litter would make it be a better organic fertilizer and ruminant feed compared with PH-based litter.

Nutritional status of schoolchildren in an urban area of Sri Lanka.

BACKGROUND: As in many other Asian countries, Sri Lanka is in the phase of a rapid demographic, nutritional and epidemiological transition. As a result dietary habits and lifestyle are changing. These have led to new health problems in the region. Childhood overweight and obesity are examples of such problems. OBJECTIVE: To provide information on the nutritional status of 8-12 years old schoolchildren in an urban area of Sri Lanka. SUBJECTS AND METHODS: Seven schools situated in the city of Colombo were randomly selected. They showed a fair representation of children of all social levels. Fifty students from each grade (years 4, 5, 6, 7) of each school were randomly selected. Their height was measured using a stadiometer to the closest 0.1cm and weight measured using an electronic weighing scale (Seca, France) to the closest 100 g. Calibration was checked with a standard weight at each 25 measurements. Information regarding behaviour, feeding practices and socioeconomic factors were obtained by a questionnaire filled by the parent or the guardian. To define obesity and overweight, sex and age specific body mass index (BMI) criteria recommended by the International Obesity Task Force (IOTF) were used. The age and sex specific BMI 5th percentile from revised NCHS (2000) growth charts were used to define thinness. Weight and height Z score of less than -2 from the median of height for age and weight for age derived using the ANTHRO software (CDC, USA) were used to define stunting and underweight respectively. Data were analysed using Epilnfo 2000 (CDC, USA) computer package. RESULTS: Anthropometric data of 1 224 children (48% boys), and feeding practices and behaviour pattern data of 1 102 children (44% boys) were analysed. Obesity prevalence among boys (4.3%) was higher than in girls (3.1%). The prevalence of thinness was 24.7% in boys and 23.1% in girls. 5.1% of boys and 5.2% of girls were stunted. 7.0% of boys and 6.8% of girls were underweight. 66% of obese children and 43.5% of overweight children belonged to high-income category (monthly family income more than Rs. 20,000). Apart from family income, behaviour patterns did not significantly influence the nutritional status. CONCLUSIONS: Although the data are not representative of the entire country, nutritional transition is evident in the city of Colombo. Obesity and overweight in older children are some emerging nutritional problems that may be the consequence of emerging patterns of the lifestyle and diet in response to social and cultural changes.