Recurrent ovarian torsion in a premenarchal girl

A 10-year-old girl presented with a recurrence of left ovarian torsion where she presented with intermittent left sided abdominal pain for 2 days. She had a similar presentation occuring 1 month ago. The patient underwent successful ovarian salvage with laparoscopic left ovary detorsion and bilateral oophoropexy 5 hours after presentation. Tumour markers were not raised. Intraoperative incisional ovarian biopsy showed no evidence of malignancy. Ovarian torsion is a rare gynaecological emergency in children with nonspecific symptoms. Early recognition and surgery are important to prevent ovarian necrosis. The presentation of acute onset unilateral abdominal pain on the background of a similar previous presentation should alert the clinician of this diagnosis. Although ovarian torsions occur more commonly in the presence of adnexal masses more than 5cm in size, it can also occur in normal ovaries especially in the premenarchal age group. Laparoscopic detorsion is the treatment of choice with oophoropexy a feasible option for prevention of a recurrence. Close follow up with ovarian surveillance is required to ensure resolution of ovarian enlargement

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life

Metabolic bone disease of prematurity: discerning calcium versus phosphorus deficiency and role of calcitriol in its management

Introduction: Metabolic bone disease of prematurity (MBDP) is prevalent among preterm infants despite major advances in neonatal care. Initial and ongoing assessment of complete bone metabolic markers help direct correct therapeutic mineral replacement. Case Presentation: A preterm infant of 30 weeks gestation and birth weight 1 kg sustained multiple spontaneous metaphyseal fractures at 5 months of age. The infant had multiple comorbidities including perforated necrotizing enterocolitis, chronic lung disease, short gut syndrome, and total parenteral nutrition-related cholestasis. Initial metabolic bone profile showed a rising trend of alkaline phosphatase (ALP) with normal calcium and declining phosphorus levels despite ongoing phosphorus supplements. Further workup showed elevated parathyroid hormone (PTH), low tubular reabsorption of phosphate (TRP), and low 25-hydroxyvitamin D (25(OH)D) levels, suggesting calcium/vitamin D deficiency with secondary hyperparathyroidism rather than inadequate phosphorus intake. Calcium and vitamin D supplementation were commenced and optimized, resulting in a decline in PTH, but ALP remained elevated. Treatment with calcitriol at dose range of 0.07 mcg/kg/day to 0.12 mcg/kg/day for 4.5 months duration led to a fall in ALP and PTH to near normal levels. Conclusion: Early nutrition with focus on calcium, phosphorus, and vitamin D is crucial to prevent MBDP. MBDP assessment should include serum PTH, TRP, and 25(OH)D levels to determine the specific mineral deficiency so that calcium, phosphorus, or vitamin D can be supplemented appropriately. Calcitriol is an effective treatment modality for calcipenic rickets where targeted mineral supplementation has been optimized

Traditional clinical criteria outperform high-sensitivity C-reactive protein for the screening of hepatic nuclear factor 1 alpha maturity-onset diabetes of the young among young Asians with diabetes

Background: Young adults with diabetes in Asia represent a heterogeneous group. Using traditional clinical criteria to preselect individuals for testing for maturity-onset diabetes of the young (MODY) may exclude a large proportion from testing. High-sensitivity C-reactive protein (hs-CRP) has shown promise as a biomarker to differentiate hepatic nuclear factor 1 alpha ( HNF1A )-MODY from type 2 diabetes. We aimed to compare the use of hs-CRP as a biomarker versus traditional criteria, to guide testing for HNF1A -MODY among a cohort of young adults with diabetes in Singapore. Methods: A total of 252 adults (age of onset ⩽45 years) and 20 children with diabetes were recruited. Using traditional criteria (family history of diabetes and onset of diabetes ⩽25 years) and an hs-CRP cut off of ⩽0.5 mg/l, 125 and 37 adults, respectively, were identified for HNF1A gene testing. All children underwent HNF1A gene testing. Results: Five adults (5/143, 3.5%) with HNF1A -MODY were identified. There were no HNF1A gene mutations among the children. Traditional criteria correctly identified all five HNF1A -MODY individuals (5/125, 4%), while applying an hs-CRP level of ⩽0.5 mg/l selected just 1 of these 5 for HNF1A gene testing (1/37, 2.7%). None of those with a positive GAD antibody or undetectable C-peptide level had HNF1A -MODY. Conclusion: The use of hs-CRP to guide screening for HNF1A -MODY among Asian young adults with diabetes did not improve the diagnostic yield. Applying a combination of age of onset of diabetes under 25 years and a family history of diabetes alone could guide targeted HNF1A -MODY screening in Asians, with an expected yield of 4% diagnosed with HNF1A -MODY among those screened

The impact of patient-centered care on health outcomes in adolescents living with diabetes

There is increasing evidence from research studies that suggest patient-centered care has a relationship with good clinical outcomes. In Singapore, there are no studies done to assess and address the issue of patient-centered care and its association with the adolescent’s ability to manage their chronic medical condition, such as Type 1 Diabetes Mellitus. The relationship between the patient and clinicians has changed from a paternalistic form to a position which aims to foster patient-centered care. More importantly, this study aims to show the adolescent’s readiness and ability to assume a more mature role in management of their own medical condition. Data collection involved 85 adolescents with diabetes who were surveyed during their follow-up outpatient clinic visit at KK Women’s and Children’s Hospital (KKH) Diabetes Transition Clinic. The study offers important clinical and nursing implications as well as policy contributions. Improved patient–provider communication as well as high quality discharge, care transition and emotional support from providers fostered by patient-centered care are likely to contribute to better patient reported psychosocial health outcomes. These findings imply that public healthcare leaders have to place emphasis in the patient and their families’ experience equivalent to those in patient safety, clinical quality, and hospital finance. Experience Framework This article is associated with the Quality & Clinical Excellence lens of The Beryl Institute Experience Framework (https://www.theberylinstitute.org/ExperienceFramework). Access other PXJ articles related to this lens. Access other resources related to this lens

Ultrasound-guided measurement of skin and subcutaneous tissue thickness in children with diabetes and recommendations for giving insulin injections

Aim: To measure skin thickness (ST) and skin + subcutaneous layer thickness (SCT) by ultrasound and estimate the risk of intramuscular injection (IM) with different needle lengths across injection sites according to age group. Method: Children recruited between 1 and 18 years with type 1 and 2 diabetes on insulin injections and divided into three age groups: 1–6 years, 7–12 years and 13–18 years. A portable ultrasound was used to measure ST and SCT at four injection sites on the abdomen, arm, thigh and buttock. Results: Total 153 children enrolled for the study. The mean (SD) measurement of ST & SCT at four sites on abdomen, arm, thigh & buttocks were as follows; 4.33 mm (±2.22), 5.55 mm (±2.26), 5.83 mm (±3.12), 6.48 mm (±3.47) in 1–6 years old; 7.11 mm (±3.68), 7.79 mm (±4.54), 7.17 mm (±3.62), 8.51 mm (±3.65) in 7–12 years old; 8.94 mm (±4.50), 8.42 mm (±5.00), 8.61 mm (±4.76), 9.76 mm (±4.38) in 13–18 years old. Young children, 1–6 years have the highest risk of IM injection with all needle lengths, i.e. 4, 5, 6, 8 & 12.7 mm, while older children 7–12 & 13–18 years have a lower risk with shorter needles (4, 5 and 6 mm) as compared to longer needles (8 and 12.7 mm). Conclusions: Children with diabetes on insulin therapy should be advised on the appropriate needle length accordingly to their age and BMI