Search

Background: One of the most frequent reasons for referral to pediatric endocrinology units is short stature. Children’s short height has a complicated etiology that includes genetics, race, gender, nutrition, and several endocrine hormones. Objective: To determine the etiological spectrum of short stature among children presenting to endocrinology outpatient clinics in a tertiary care hospital. Methods: This descriptive cross-sectional study was performed in the outpatient clinic of the Endocrinology Department at the National Institute of Child Health Hospital from September to December 2022. Short stature was defined as height for age

ABSTRACT Objective: To describe two cases of unusual variants of sickle cell disease. Case description: We present two cases of sickle cell disease variants (haemoglobinopathies), from unrelated families, in the state of Balochistan (Pakistan). One was diagnosed with sickle cell disease in the haemoglobin electrophoresis, whereas the other was diagnosed with sickle cell SE disease. Both were diagnosed based on the presentation of osteomyelitis. Comments: Haemoglobin SD disease (Hb SD) and haemoglobin SE disease (Hb SE) are rare haemoglobinopathies in the world. The lack of available literature suggests that both are variants of sickle cell disease (SCD), with heterogeneous nature. The prevalence of sickle cell disease with compound heterozygotes was found at a variable frequency in the population of the Asian Southeast. The frequency of osteomyelitis in SCD is 12 to 18%, but its occurrence among variant haemoglobinopathies is little reported. Both reported cases presented with osteomyelitis as a characteristic of the disease presentation.

CLAN (Caring and Living as Neighbours) is an Australian-based non-governmental organisation (NGO) committed to equity for children living with chronic health conditions in resource-poor settings. Since 2004, CLAN has collaborated with a broad range of partners across the Asia Pacific region to improve quality of life for children living with congenital adrenal hyperplasia (CAH). This exploratory case study uses the Knowledge to Action (KTA) framework to analyse CLAN’s activities for children living with CAH in the Asia Pacific. The seven stages of the KTA action cycle inform a systematic examination of comprehensive, collaborative, sustained actions to address a complex health challenge. The KTA framework demonstrates the “how” of CLAN’s approach to knowledge creation and exchange, and the centrality of community development to multisectoral collaborative action across a range of conditions, cultures and countries to redressing child health inequities. This includes a commitment to: affordable access to essential medicines and equipment; education, research and advocacy; optimisation of medical management; encouragement of family support groups; efforts to reduce financial burdens; and ethical, transparent program management as critical components of success. Improvements in quality of life and health outcomes are achievable for children living with CAH and other chronic health conditions in resource-poor settings. CLAN’s strategic framework for action offers a model for those committed to #LeaveNoChildBehind.

Introduction: Shoulder pain is one of the most common presentations in Orthopaedic patients. Rotator cuff pathologies consist of a significant proportion of shoulder pathologies. With progress in imaging techniques, the preoperative detection and characterisation of rotator cuff injuries has become much easier. Ultrasound (USG) and Magnetic Resonance Imaging (MRI) are the most commonly used imaging modalities for rotator cuff tears. Excellent soft tissue resolution, multiplanar imaging and non-invasive technique have made MRI the imaging modality of choice in evaluation of rotator cuff. However, high cost and limited availability prevent it from becoming the screening modality of choice. USG on the other hand is cheap and easily available and hence can be made the first modality for rotator cuff tears. Aim: To determine the efficacy of USG in detecting rotator cuff tears in comparison to MRI. Materials and Methods: We evaluated 50 patients of all age groups in Department of Radiology, Gauhati Medical College and Hospital, Assam, India, with suspicious rotator cuff tears first by high resolution USG and then by 1.5 T MRI. Both USG and MRI were performed by the same radiologist. Since MRI was always followed by USG, the radiologist was blind to the MRI results. Results: Supraspinatus was the most commonly affected tendon (79%). Partial thickness tears were the most common rotator cuff pathology. USG showed a sensitivity of 66.67%, specificity of 92.5%, PPV of 68.96% and NPV of 91.74% in detecting partial thickness tears. Whereas, USG showed excellent results in detecting full thickness tears with a sensitivity of 100%, specificity of 99.31%, PPV of 91.74% and NPV of 100%. Conclusion: USG done has a near similar accuracy for detecting full thickness rotator cuff tears as MRI and has an acceptable accuracy for detecting partial thickness tears too. Hence, due to its availability, accuracy and cost effectiveness, USG should be made the first line modality for detecting rotator cuff tears and MRI should be reserved for indeterminate or complex cases where USG does not suffice in serving the clinical purpose.

Dysfunction of the endoplasmic reticulum (ER) in insulin-producing beta cells results in cell loss and diabetes mellitus. Here we report on five individuals from three different consanguineous families with infancy-onset diabetes mellitus and severe neurodevelopmental delay caused by a homozygous p.(Arg371Ser) mutation in FICD. The FICD gene encodes a bifunctional Fic domain-containing enzyme that regulates the ER Hsp70 chaperone, BiP, via catalysis of two antagonistic reactions: inhibitory AMPylation and stimulatory deAMPylation of BiP. Arg371 is a conserved residue in the Fic domain active site. The FICD R371S mutation partially compromises BiP AMPylation in vitro but eliminates all detectable deAMPylation activity. Overexpression of FICD R371S or knock-in of the mutation at the FICD locus of stressed CHO cells results in inappropriately elevated levels of AMPylated BiP and compromised secretion. These findings, guided by human genetics, highlight the destructive consequences of de-regulated BiP AMPylation and raise the prospect of tuning FICD's antagonistic activities towards therapeutic ends., (© 2023 The Authors. Published under the terms of the CC BY 4.0 license.)