Introduction: Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with dysregulation of genes on chromosome 11p15.5. Infants with BWS can present with hyperinsulinemic hypoglycemia. There are also distinctive clinical features including macrosomia, macroglossia and visceromegaly that may raise suspicion of this diagnosis. Case: A preterm female infant of 30 weeks gestation with a birth weight of 1.87 kg (97th centile) had recurrent hypoglycemia in the neonatal period, requiring escalation to a maximum glucose infusion rate of 17.6 mg/kg/min. Hypoglycemia only resolved after starting intravenous glucagon infusion. Critical sampling during hypoglycemia revealed serum insulin 3.9 µU/mL (3–25 µU/mL), serum ketone 0.2 mmol/L, cortisol 3,053 nmol/L and growth hormone 16.2 ng/mL. These findings supported the diagnosis of non-ketotic hyperinsulinemic hypoglycemia. She was commenced on oral diazoxide with resolution of hypoglycemia and discontinuation of glucagon. Examination at birth revealed macroglossia, hepatomegaly and ballotable kidneys. An initial US abdomen at birth revealed bilateral enlarged kidneys but normal liver. An initial chromosomal study revealed karyotype 46, XX. Over time, additional clinical features became evident fulfilling the diagnostic criteria for BWS, that is, polyhydramnios, large for gestational age, transient hypoglycemia, hyperinsulinism, macroglossia, hemihypertrophy, facial nevi, bilateral ear creases, hepatomegaly and ballotable kidney. A repeat US abdomen surveillance at 4 months old revealed a heterogeneous liver mass with marked vascularity, prompting a diagnosis of hepatic hemangioma. She was commenced on oral propranolol, with reduction in the size and vascularity of the liver hemangioma and decline in alpha-fetoprotein levels. Conclusion The clinical features of BWS may not be recognizable in a preterm baby in early neonatal period. Careful clinical examination should be done in a baby with persistent hyperinsulinemic hypoglycemia for underlying syndromal causes. US surveillance should also be carried out due to increased risk of hepatoblastoma or liver hemangioma in BWS, as was seen in this case.
Infant, Newborn ; Infant ; Beckwith-Wiedemann Syndrome ; Infant, Premature ; Hypoglycemia

Introduction: Hypernatremia in preterm babies is often due to insensible water loss, inadequate fluid intake or sodium imbalance due to immature kidneys. Congenital nephrogenic diabetes insipidus (CNDI) is an uncommon cause of hypernatremia in neonates and presents shortly after birth. Early recognition is important to prevent severe dehydration, electrolytes imbalance and neurological complications. Case: We report a case of a preterm 32-week female infant, with a birth weight of 1.14 kg with persistent hypernatremia (146– 156 mmol/L) from day 4 of life. She received total parenteral nutrition since birth and was started on breastmilk since day 5 of life. The baby was mildly dehydrated with weight loss and high urea (6.5 mmol/L) at day 7 of life. Total fluids were increased to 160 mL/kg/day but serum sodium remained elevated even though the urea had normalized. The infant was also noted to have high urine output (5–6 mL/kg/hour) since day 3 of life and suboptimal weight gain. Further evaluation at age 1 month revealed urine osmolality 71 mOsm/kg, serum osmolality 308 mOsm/kg and urine sodium <20 mmol/L when serum sodium was 150 mmol/L, suggestive of DI. A trial of desmopressin showed unchanged serum sodium (Na), suggesting nephrogenic DI. Administration of intravenous fluids of 1/5NSD10% resulted in further increase of both sodium (159 mmol/L) and serum osmolality (326 mOsm/kg) with low urine osmolality (111 mOsm/kg). Intravenous fluids were discontinued and she was started on hydrochlorothiazide (1 mg/kg/dose bd), resulting in gradual normalization of sodium 138 mmol/L. Post discharge, she had good weight gain and normal developmental milestones at corrected age of 1.5-month-old. Due to early onset hypernatremia, the infant was referred for genetic testing to rule out CNDI. Conclusion Early onset persistent hypernatremia and high urine output despite adequate fluid management should prompt evaluation of DI. Early diagnosis is crucial to prevent a chronic state of hypernatremia that can lead to growth and developmental delay.
Infant, Newborn ; Dehydration ; Hypernatremia

INTRODUCTION: Despite the exponential increase in microbiome research, knowledge and beliefs about the gut microbiome and faecal microbiota transplantation (FMT) remain unclear. The aim of this study was to identify the extent of knowledge, awareness and perception among the general public regarding the gut microbiome and FMT. METHODS: An online questionnaire on knowledge and beliefs about the gut microbiome and FMT was administered to 1831 participants. Data analysis software was used to generate descriptive statistics and explore associations between knowledge and sociodemographic variables. RESULTS: Even though only 33% of participants had heard of the gut microbiome, more than 92% had consumed probiotic drinks or supplements. While 85% had not heard of the FMT procedure, 72% of respondents would consider having FMT to treat Clostridioides difficile infection (CDI). Willingness to receive FMT depended mainly on recommendation from healthcare providers (77%). Knowledge and awareness regarding the gut microbiome and FMT were relatively low, despite most participants having prior gut health-related behaviours. CONCLUSION This study identified the public's perceptions of FMT and the potential barriers to its uptake. Insights from the study highlight the need for health education to enhance acceptance of FMT and the importance of using information supported by medical professionals to immunise the public against poorly validated science.
Humans ; Fecal Microbiota Transplantation ; Health Knowledge, Attitudes, Practice ; Male ; Female ; Singapore ; Gastrointestinal Microbiome ; Surveys and Questionnaires ; Adult ; Middle Aged ; Young Adult ; Aged ; Clostridium Infections/therapy* ; Adolescent

Background: Recent reports have suggested that pneumonitis is a rare complication following vaccination against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).However, its clinical features and outcomes are not well known. The aim of this study was to identify the clinical characteristics and outcomes of patients with vaccine-associated pneumonitis following vaccination against SARS-CoV-2. Methods: In this nationwide multicenter survey study, questionnaires were distributed to pulmonary physicians in referral hospitals. They were asked to report cases of development or exacerbation of interstitial lung disease (ILD) associated with the coronavirus disease 2019 vaccine. Vaccine-associated pneumonitis was defined as new pulmonary infiltrates documented on chest computed tomography within 4 weeks of vaccination and exclusion of other possible etiologies. Results: From the survey, 49 cases of vaccine-associated pneumonitis were identified between February 27 and October 30, 2021. After multidisciplinary discussion, 46 cases were analyzed. The median age was 66 years and 28 (61%) were male. The median interval between vaccination and respiratory symptoms was 5 days. There were 20 (43%), 17 (37%), and nine (19%) patients with newly identified pneumonitis, exacerbation of pre-diagnosed ILD, and undetermined pre-existing ILD, respectively. The administered vaccines were BNT162b2 and ChAdOx1 nCov-19/AZD1222 each in 21 patients followed by mRNA-1273 in three, and Ad26.COV2.S in one patient. Except for five patients with mild disease, 41 (89%) patients were treated with corticosteroid. Significant improvement was observed in 26 (57%) patients including four patients who did not receive treatment. However, ILD aggravated in 9 (20%) patients despite treatment. Mortality was observed in eight (17%) patients. Conclusion These results suggest pneumonitis as a potentially significant safety concern for vaccines against SARS-CoV-2. Clinical awareness and patient education are necessary for early recognition and prompt management. Additional research is warranted to identify the epidemiology and characterize the pathophysiology of vaccine-associated pneumonitis.

Purpose: Intraoperative femoral condyle fracture is a significant but rarely reported complication during primary total knee arthroplasty (TKA). This is the first study to identify the incidence, risk factors, location and outcome of these fractures in an Asian population with modern posterior-stabilized (PS) TKA. Materials and methods: We reviewed 2682 consecutive primary TKAs performed between 2011 and 2017 in a single centre; 23 femoral condyle fractures were identified and analysed. Results: Fractures were managed conservatively with screw fixation or revision arthroplasty. Mean follow up was 3.0 years (range 3 months to 5.9 years). All patients achieved bone union and good functional outcome. The mean Knee Society Knee score was 89.4 (range 71–100) and the function score was 80.2 (range 60–95) at a mean of 3.0 years post-operation. Bilateral surgery was found to be a significant risk factor for femoral condyle fracture, while there was a higher trend of fracture in female patients and Stryker articular surface mounted (ASM) navigation. Conclusions Intraoperative fracture is not uncommon with modern PS TKA. Postulated risk factors for fracture were discussed. Early identification of risk factors and a rigorous surgical technique may reduce risk of fracture. A good functional result was expected after proper treatment.

Background: Forgotten Joint Score (FJS) has become a popular tool for total knee arthroplasty (TKA), but almost all studies had assessment performed 1 year after surgery. There is a need for a sensitive tool for earlier outcome assessment. The aim of this study was to investigate the usefulness of FJS within the first year after TKA. Methods: This was a cross-sectional study. Patients within the first year after primary TKA were recruited. FJS was translated into the local language with a cross-cultural adaptation and was validated by assessing the correlation with the Western Ontario and McMaster Universities Arthritis Index score (WOMAC). Ceiling and floor effects (highest or lowest 10% or 15%) of both scores were compared. Skewness of scores was assessed with a histogram. Results: One hundred sixty-three subjects were recruited: 84 (51.5%) had evaluation at 3 months after the operation, 56 (34.4%) at 6 months, and 23 (14.1%) at 12 months. FJS had fewer patients at the highest 10% (10.7% vs. 16.1%, P = 0.046) or 15% (19.6% vs. 32.1%, P = 0.027) at 6 months and within the first year overall (6.7% vs. 13.5%, P <0.001; 14.1% vs. 22.7%, P <0.001). Also, it had more patients at the lowest 10% (16.7% vs. 0%, P <0.001) or 15% (21.4% vs. 0%, P < 0.001) at 3 months, 6 months (10.7% vs. 0%,P <0.001), and overall (12.9% vs. 0%, P <0.001; 16.6% vs. 0%, P <0.001). The skewness was much less than WOMAC (0.09 vs. −0.56). Conclusions FJS has a low ceiling effect but a high floor effect in the first year after TKA. Such characteristics make it less useful for the general assessment of early patient report outcome after operation.

Purpose: In patients with locally advanced breast cancer, neoadjuvant chemotherapy is widely used. It has a distinct advantage in the downstaging of the primary tumor and provides important information about treatment response. With its increasing usage, concerns over the appropriate management of the axilla have emerged. In this study, we compared oncological outcomes of conventional axillary lymph node dissection (ALND) over axillary sampling (AS) with radiotherapy (RT) in patients who received neoadjuvant chemotherapy. Methods: In this retrospective study, we included female patients with triple negative breast cancer (TNBC) and HER2 type breast cancer who underwent breast and axillary surgery after neoadjuvant chemotherapy between May 2011 to December 2016. A total of 89 patients’ medical records were eligible for analysis. We defined AS as removal of at least four axillary lymph nodes located near the sentinel lymph nodes without full exposure of the axillary vein, long thoracic nerve, and thoracodorsal nerve. Results: The median follow-up period was 47.00 months. The disease-free survival was 69.66 months in the AS with RT group and 69.02 months in the ALND group (p=0.280). The invasive disease-free survival was 75.16 months in the AS with RT group and 78.44 months in the ALND group (p=0.218). Conclusion AS with radiotherapy might be a feasible surgical option in patients with TNBC and HER2 type breast cancer after neoadjuvant chemotherapy.

Objective: We aimed to identify the relation between perioperative cerebrospinal fluid (CSF) drain through lumbar drainage (LD) and development of postoperative (POP) remote intracerebral hemorrhage (rICH) in craniotomy to treat ruptured intracranial aneurysms. Methods: We retrospectively reviewed consecutive patients who underwent craniotomy for ruptured cerebral aneurysms at the authors’ institution between 1998 and 2004. We subsequently compared the incidence and characteristics of POP rICH between the patients who had a perioperative LD and those who did not. All statistical analyses were conducted using the software package SPSS 19.0 (SPSS Inc., Chicago, IL, USA). A p value of <0.05 was considered statistically significant. Results: We enrolled 688 patients, of which 80 patients (11.6%) received perioperative LD, and 608 did not. LD and non-LD groups were comparable because although clinical characteristics of the two groups were significantly different considering history of hypertension, timing of surgery, and closed system negative pressure suction drain (SD) placement, none of these three variables was an independent risk factor associated with POP rICH in multivariate analysis. POP rICH incidence was significantly higher in the LD goup (12.5%) than non-LD group (0.8%) (p=0.000) in univariate analysis. LD placement was the only independent risk factor associated with the development of rICH in multivariate logistic regression analysis. Conclusions POP rICH incidence was significantly higher in patients who were managed with perioperative LD than in those who did not. LD insertion in craniotomy for ruptured intracranial aneurysm, should be closely monitored to address the occurrence of POP rICH.

BACKGROUND: Scrub typhus, severe fever with thrombocytopenia syndrome (SFTS) and human granulocytic anaplasmosis (HGA) are important arthropod-borne infectious diseases in Korea and share a common point that they are transmitted by arthropod bites mostly during outdoor activities and there are considerable overlaps of epidemiologic and clinical features at presentation. We investigated the co-infection of these infections. METHODS: The study subjects were patients with laboratory-confirmed scrub typhus who were enrolled retrospectively in 2006. SFTS virus (SFTSV) infection was confirmed by a reverse transcriptase polymerase chain reaction (PCR) to amplify partial L segment of SFTSV for molecular diagnosis. HGA was confirmed by a nested PCR to amplify 16S rRNA gene of Anaplasma phagocytophilum. Direct sequencing of the positive PCR products was performed. Clinical features of co-infected subjects were described. RESULTS: One-hundred sixty-seven patients with scrub typhus were included in the analysis. Co-infection of A. phagocytophilum was identified in 4.2% of scrub typhus patients (7/167). The route of co-infection was uncertain. The co-infected patients had not different clinical manifestations compared to the patients with scrub typhus only. All the study subjects were negative for SFTSV. CONCLUSION: We found retrospective molecular evidence of the co-infection of scrub typhus and HGA in Korea. HGA may be more prevalent than expected and need to be considered as an important differential diagnosis of febrile patients in Korea.
Anaplasma phagocytophilum ; Anaplasmosis ; Animals ; Arthropods ; Coinfection ; Communicable Diseases ; Diagnosis ; Diagnosis, Differential ; Fever ; Genes, rRNA ; Humans ; Korea ; Polymerase Chain Reaction ; Retrospective Studies ; Reverse Transcriptase Polymerase Chain Reaction ; Scrub Typhus ; Thrombocytopenia