An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant

Pseudohypoaldosteronism type1A (PHA1A) is the renal form of pseudohypoaldosteronism with autosomal dominant inheritance. PHA1A is caused by haploinsufficiency of the mineralocorticoid receptor, which is encoded by NR3C2. We encountered an infant who was diagnosed with PHA1A due to hyponatremia, hyperkalemia, and poor weight gain in the neonatal period. She carried a novel heterozygous mutation (NM_000901.5: c.1757 + 1 G > C) in the splice donor site of IVS-2 in NR3C2.

Impacts from Wildfires on Livestock Health and Production: Producer Perspectives

Wildfires are increasing in frequency and severity across the Western United States. However, there is limited information available on the impacts these fires are having on the livelihood of livestock producers and their animals. This work presents the results of a survey evaluating the direct and indirect impacts of the 2020 wildfire season on beef cattle, dairy cattle, sheep, and goat, producers in California, Oregon, and Nevada. Seventy completed surveys were collected between May and July 2021. While dairy producers reported no direct impacts from the fires, beef, sheep, and goat producers were impacted by evacuations and pasture lost to fires. Only beef producers reported losses due to burns and burn-associated deaths or euthanasia. Dairy, beef, sheep, and goat producers observed reduced conception, poor weight gain, and drops in milk production. All but dairy producers also observed pneumonia. Lower birthweights, increased abortion rates, and unexplained deaths were reported in beef cattle, sheep, and goats. This work documents the wide-ranging impacts of wildfires on livestock producers and highlights the need for additional work defining the health impacts of fire and smoke exposure in livestock, as well as the policy changes needed to support producers experiencing direct and indirect losses.

Poor weight gain and its predictors among preterm neonates admitted at Muhimbili National Hospital in Dar-es-salaam, Tanzania: a prospective cohort study

Background Preterm delivery is among the major public health problems worldwide and the leading cause of morbidity and mortality among neonates. Postnatal poor weight gain, which can contribute to mortality, can be influenced by feeding practices, medical complications and quality of care that is provided to these high-risk neonates. This study aimed to investigate the proportion and predictors of poor weight gain among preterm neonates at Muhimbili National Hospital (MNH), from September 2018 to February 2019. Methods A hospital-based prospective cohort study involving preterm neonates with Gestation age (GA) < 37 weeks receiving care at MNH. Eligible preterm, were consecutively recruited at admission and followed up until discharge, death or end of neonatal period. Poor weight gain was defined as weight gain less than 15 g per kg per day. The risk factors associated with poor weight gain were evaluated. Predictors of poor weight gain were evaluated using a multivariate analysis. Results were considered statistically significant if P -value was < 0.05 and 95% confidence interval (CI) did not include 1. Results A total of 227 preterm neonates < 37 weeks GA, with male to female ratio of 1:1.2 were enrolled in the study. The overall proportion of preterm with poor weight gain was 197/227 (86.8%). Proportion of poor weight gain among the early and late preterm babies, were 100/113 (88.5%) and 97/114 (85.1%) respectively. Predictors of poor weight gain were low level of maternal education (AOR = 2.58; 95%Cl: 1.02–6.53), cup feeding as the initial method of feeding (AOR = 8.65; 95%Cl: 1.59–16.24) and delayed initiation of the first feed more than 48 h (AOR = 10.06; 95%Cl: 4.14–24.43). A previous history of preterm delivery was protective against poor weight gain (AOR = 0.33; 95% Cl: 0.11–0.79). Conclusion and recommendation Poor weight gain was a significant problem among preterm neonates receiving care at MNH. This can be addressed by emphasizing on early initiation of feed and tube feeding for neonates who are not able to breastfeed. Health education and counselling to mothers focusing on feeding practices as well as close supervision of feeding especially for mothers experiencing difficulties in feeding their preterm will potentially minimize risk of growth failure.

X-linked SCID with a rare mutation

Background Severe combined immunodeficiency (SCID) is a group of relatively rare primary immunodeficiency disorders (PIDs), characterized by disturbed development of T cells and B cells, caused by several genetic mutations that bring on different clinical presentations. SCID may be inherited as an autosomal recessive or an X-linked genetic trait. Case presentation A 6-year-old male presented with a history of food allergy, productive coughs, and recurrent purulent rhinitis, poor weight gain and hypothyroidism. The total count of CD4+ T lymphocytes, along with their naïve and central memory subpopulations, as well as central memory CD8+ T cells were decreased in flow cytometry. A nucleotide substitution in exon one of interleukin 2 receptor gamma chain (IL-2RG) gene (c.115 G>A, p.D39N, ChrX: 70,331,275) was reported, based on which the diagnosis of X-liked SCID was confirmed. Antiviral and antibiotic prophylaxis, along with monthly IVIG (intravenous immunoglobulin) was started and the patient was subsequently referred for hematopoietic stem cell transplantation. Conclusion PIDs should be considered as the differential diagnosis in any patient with unexplained and bizarre symptoms associated with recurrent infections, allergic and autoimmune manifestations. Clinicians should also bear X-SCID in mind in case of approach to any patient with poor weight gain, unusual allergic or endocrine manifestations, even in the case of a normal or increased level of serum immunoglobulins or T and B cells numbers.

Allgrove syndrome: a case report

Allgrove syndrome is an autosomal recessive disease which is characterized by Achalasia, Alacrimia and ACTH-resistant Adrenal deficiency with progressive neurological manifestations. Allgrove syndrome is caused due to mutations in AAAS gene, localized on chromosome 12q13. This report relates to an 8 years old female child who had complaints of vomting, fever, cough, hyperpigmentation and poor weight gain. Barium swallow, ophthalmic examination and ACTH stimulation test proves that patient has Allgrove’s syndrome. Management consisted of initiation of cortisone therapy which was successful in improving the hyper pigmentation. Patient was planned for surgical intervention for achalasia cardia on follow-up. Allgrove’s syndrome may be an under diagnosed disorder. High index of suspicion is needed when patients present with such complex symptoms. Diagnosing and timely intervention helps in reducing the morbidity and mortality.

What’s new for the clinician? - Excerpts from and summaries of recently published papers

The World Health Organization (WHO) considers breast milk as the best source of nourishment for infants. Although exclusive breastfeeding is recommended up to 6 months of age, globally only 40% of children under this age are exclusively breastfed and this is mainly due to negative breastfeeding experiences. There are many different causes for negative breastfeeding experiences such as poor weight gain, necessitating supplementation, poor latch, maternal nipple pain, and oral restrictions like a tongue-tie (ankyloglossia) and/or lip-tie. Ankyloglossia (either the decrease in mobility for the tongue by classic anterior tongue-tie or a submucosal restriction, a posterior tongue-tie) and a superior tethered labial frenulum can cause altered latch and sucking mechanics. Studies have shown that a frenotomy, if adequately performed, can improve breastfeeding scores and relieve nipple pain with little or no serious complications.

Management and Control of Eimeria Infection in Goats

Coccidian parasites of the genus Eimeira cause coccidiosis in farm animals, which develop in both the small and the large intestines. Coccidiosis is a major economic concern in many livestock, especially in young animals, as a result of losses caused by clinical infection (diarrhea) and subclinical (poor weight gain in particular) and the required treatment costs. Herein, we summarize geographical distribution of Eimeria parasites, their life cycle, pathogenesis, clinical signs, economic losses due to coccidiosis, diagnosis, recent information on control and prevention, and anticoccidial drugs for Eimeria infection in goats. With regard to poverty alleviation in most developing agricultural countries, it is important to maintain and develop goat-related industries. Proper management should be used to prevent losses and reduce the productivity from coccidiosis in young animals by: reducing the level of environmental contamination by infectious oocysts; minimizing stress; and avoiding overcrowding.

Optimizing parenteral nutrition to achieve an adequate weight gain according to the current guidelines in preterm infants with birth weight less than 1500 g: a prospective observational study

Aim European Society for Clinical Nutrition and Metabolism released the guidelines on pediatric parenteral nutrition in 2018. We aimed to compare the parenteral nutrition (PN) regimen with the current guidelines, evaluate weight gain and explore the correlation of parenteral macronutrient and energy intakes with weight gain outcome in preterm infants with birth weight less than 1500 g. Methods A prospective observational study was conducted. Parenteral macronutrients and energy intakes were described. Weight gain during PN was assessed. Nutritional factors associated with weight gain outcome after PN were identified using a cox proportional hazards model. Results A total of 163 infants were included in this study, in which 41 were extremely low birth weight (ELBW) infants and 122 were very low birth weight (VLBW) infants. Average glucose, amino acid, lipid, and energy during the first postnatal week were 7.5 g/kg/d, 2.4 g/kg/d, 0.8 g/kg/d, 48 kcal/kg/d. Median maximum glucose, amino acid, lipid, and energy were 11.1 g/kg/d, 3.5 g/kg/d, 3 g/kg/d, 78 kcal/kg/d. Median days to maximum glucose, amino acid, lipid, and energy were 10, 9, 12, 11 days. The proportion of appropriate for gestational age (AGA) infants was 76.9%. The ratio of infants without poor weight gain outcome after PN was 38%. With every 0.1 g/kg/d decrease of maximum amino acid and average lipid during the first postnatal week, the probability of appropriate weight gain outcome decreased by 77.6 and 74.4% respectively. With each additional day to maximum glucose and energy, the probability of appropriate weight gain outcome decreased by 5.6 and 6.1% respectively. Conclusions Most preterm infants with birth weight less than 1500 g remain below the latest recommended nutrition goals. The poor weight gain outcome of these infants after PN is related to insufficient parenteral macronutrient and energy intakes. PN strategies should be improved according to the latest evidence-based recommendations.