Resolution of asthmatic symptoms following successful endoscopic resection of tracheal mucoepidermoid carcinoma

Mucoepidermoid carcinoma (MEC) is a rare tumour of the trachea accounting for up to 0.2% of reported primary lung malignancy. We report a case of a 54-year-old man, ex-smoker, whose presentation mimicked adult onset asthma with cough and wheezing, which did not respond to conventional treatment. He had occasional haemoptysis and weight loss in which CT scan performed for malignancy screening showed a protruding mass in the distal trachea causing endobronchial obstruction. Bronchoscopic intervention was performed to relieve the obstruction that resulted in resolution of asthmatic symptoms. Histological diagnosis confirmed MEC. This case emphasised the importance of a high index of suspicion in an unusual presentation of a common disease and the pivotal role of bronchoscopic intervention in malignant central airway obstruction

Glycemic patterns and factors associated with post-hemodialysis hyperglycemia among end-sStage-renal disease patients undergoing maintenance hemodialysis

Introduction. Chronic and post-prandial hyperglycemia are independent risk factors for diabetic complications. Glycemic patterns among hemodialysis end-stage-renal-disease (ESRD) differ as glucose metabolism changes with declining kidney function with more pronounced glycemic fluctuations. The objectives of this study are to determine glycemic patterns on hemodialysis days, the magnitude of post-hemodialysis rebound hyperglycemia (PHH) and their associated factors. Methodology. 148 patients on hemodialysis were analysed, 91 patients had end-stage-diabetic-renal disease (DM-ESRD), and 57 patients had end-stage-non-diabetic renal disease (NDM-ESRD). Glycemic patterns and PHH data were obtained from 11-point and 7-point self-monitoring blood glucose (SMBG) profiles on hemodialysis and non-hemodialysis days. PHH and its associated factors were analysed with logistic regression. Results. Mean blood glucose on hemodialysis days was 9.33 [SD 2.7] mmol/L in DM-ESRD patients compared to 6.07 [SD 0.85] mmol/L in those with NDM-ESRD (p<0.001). PHH occurred in 70% of patients and was more pronounced in DM-ESRD compared to NDM-ESRD patients (72.5% vs 27.5%; OR 4.5). Asymptomatic hypoglycemia was observed in 18% of patients. DM-ESRD, older age, previous IHD, obesity, high HbA1c, elevated highly-sensitive CRP and low albumin were associated with PHH. Conclusion. DM-ESRD patients experienced significant PHH in our cohort. Other associated factors include older age, previous IHD, obesity, high HbA1c, elevated hs-CRP and low albumin

Hypersexuality in a rape victim child

Hypersexuality is rare in children. Our case describes a 14-year-old girl who presented with a history suggestive of hypersexuality. She was repeatedly raped and exposed to video pornography at a very young age. Consequently, she became addicted to pleasure during sexual intercourse and actively involved in multiple unprotected sexual intercourses. Management, in this case, was challenging, where early intervention with contraceptive methods and cognitive behavioural therapy were unsuccessful. Subsequently, alternative treatment with Islamic psycho-spiritual therapy combined with conventional therapy resulted in an improvement in her sexual pre-occupation. This case highlights the importance of recognition of hypersexuality, especially among children with a history of sexual abuse as management proofs to be challenging, and requires a multimodal approach to prevent a potentially devastating outcome

Glycemic patterns and factors associated with post-hemodialysis hyperglycemia among end-stage renal disease patients undergoing maintenance hemodialysis

Introduction: Chronic and post-prandial hyperglycemia are independent risk factors for diabetic complications. Glycemic patterns among hemodialysis end-stage-renal-disease (ESRD) differ as glucose metabolism changes with declining kidney function with more pronounced glycemic fluctuations. The objectives of this study are to determine glycemic patterns on hemodialysis days, the magnitude of post-hemodialysis rebound hyperglycemia (PHH) and their associated factors. Methodology: 148 patients on hemodialysis were analysed, 91 patients had end-stage-diabetic-renal disease (DM-ESRD), and 57 patients had end-stage-non-diabetic renal disease (NDM-ESRD). Glycemic patterns and PHH data were obtained from 11-point and 7-point self-monitoring blood glucose (SMBG) profiles on hemodialysis and non-hemodialysis days. PHH and its associated factors were analysed with logistic regression. Results: Mean blood glucose on hemodialysis days was 9.33 [SD 2.7] mmol/L in DM-ESRD patients compared to 6.07 [SD 0.85] mmol/L in those with NDM-ESRD (p<0.001). PHH occurred in 70% of patients and was more pronounced in DM-ESRD compared to NDM-ESRD patients (72.5% vs 27.5%; OR 4.5). Asymptomatic hypoglycemia was observed in 18% of patients. DM-ESRD, older age, previous IHD, obesity, high HbA1c, elevated highly-sensitive CRP and low albumin were associated with PHH. Conclusion: DM-ESRD patients experienced significant PHH in our cohort. Other associated factors include older age, previous IHD, obesity, high HbA1c, elevated hs-CRP and low albumin

Giant intracavernous aneurysm presenting with isolated trigeminal neuralgia: a case report

Background: Trigeminal neuralgia (TN) commonly affects individuals aged more than 50 years and is mostly primary owing to trigeminal nerve neurovascular compression. We report a case of secondary TN attributed to a giant intracavernous aneurysm compressing the trigeminal nerve. Case presentation: A 74-year-old female presented with classic TN symptoms, which were initially refractory to medical treatment. Imaging including MRI brain, MR angiography, and cerebral angiogram revealed a giant intracavernous aneurysm measuring 1.7 cm × 2.8 cm, inducing mass effect on the left Meckel's cave. Aneurysm embolization was challenging due to the difficult cannulation of the distal portion of the aneurysm. The patient opted for conservative management with mild improvement of symptoms. Conclusions: Intracavernous aneurysm rarely present with isolated trigeminal neuralgia. This case report emphasizes that the assessment of the intracranial vasculature should be considered as part of the diagnostic imaging work-up for patients presenting with TN

Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family

Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene encoding skeletal muscle chloride channels. MC is characterized by delayed muscle relaxation during contraction, resulting in muscle stiffness. There is a lack of MC case reports and data on the prevalence among Malaysians. We report a clinical case of a 50-year-old woman presents with muscle stiffness and cramp episodes that started in early childhood. She had difficulty initiating muscle movement and presented with transient muscle weakness after rest, which usually improved after repeated contraction (warm-up phenomenon). She was diagnosed with MC after myotonic discharge on electromyography (EMG). Her brother had similar symptoms; however, no additional family members showed MC symptoms. Serum creatine kinase levels were elevated in both the proband and her brother with 447 U/L and 228 U/L recorded, respectively. Genetic analysis by whole-exome sequencing (WES) revealed a previously reported pathogenic CLCN1 gene variant c.1667T&gt;A (p.I556N). Genetic screening of all family members revealed that the same variant was observed in the children of both the proband and her brother; however, the children did not present with either clinical or electrophysiological MC symptoms. The multiplex ligation-dependent probe amplification (MLPA) analysis conducted identified neither exon deletion nor duplication in CLCN1. In conclusion, this report describes the first case of MC in Malaysia in which incomplete penetrance observed in this family is caused by a known pathogenic CLCN1 variant

Stiff person-like syndrome: an unusual presentation of pituitary macroadenoma with panhypopituitarism

Pituitary adenoma can manifest as pituitary hypofunction, which can cause symptoms of panhypopituitarism. Commonly, symptoms of hormonal deficiencies such as lethargy, weight change, cold intolerance, and sexual dysfunction are reported. Optic chiasmal compression leads to visual field changes and the discovery of the pituitary lesion. However, limb stiffness is a rare presentation of hypopituitarism, especially hypocortisolism. We report a 68-year-old man who presented with progressive lower limb stiffness associated with truncal instability mimicking a stiff person syndrome (SPS). Hypoglycaemia and hyponatraemia prompted the discovery of pituitary macroadenoma with panhypopituitarism. Investigation showed pituitary macroadenoma on magnetic resonance imaging with hypocortisolism, hypothyroidism, and hypogonadotropic hypogonadism. After initiating hydrocortisone replacement, the patient had complete resolution of lower limb stiffness with no permanent neurological sequelae. It is postulated that hypocortisolism and hyponatraemia disrupt the metabolic function of muscle leading to stiffness. As a result, lower limb rigidity, flexion deformities, and pain are more common. Differentiating adrenal insufficiency associated with rigidity and SPS is important as the response to treatment for both conditions differs. Prompt treatment leads to fast resolution and prevents contractures in adrenal insufficiency-associated rigidity. Thus, recognizing limb rigidity as the first presentation of hypopituitarism is important to avoid long-term complications

Assessment of factors associated with post-dialysis hyperglycemic spike and glycemic variability in patients undergoing maintenance haemodialysis

Introduction: Chronic hyperglycemia and post-excursion hyperglycemia had been established as independent risk factors for diabetic complications. Recently, the concept of glycemic triumvirate, which encompasses chronic hyperglycemia, hypoglycemia and glycemic variability (GV) being favored as the main pathophysiology in diabetic outcome mainly cardiovascular complications. In Malaysia, cardiovascular disease attributed to one-third of all death in diabetic hemodialysis patients with a 3-fold increase in mortality as compared to non-diabetic patients. Objective: This study is performed to determine magnitude of post-dialysis rebound hyperglycemia, GV and their contributing factors. Methodology: 150 patients on haemodialysis were recruited, 93 patients had end-stage-diabetic-renal disease (DM-ESRD) and 57 patients had end-stage-non-diabetic renal disease (NDM-ESRD). Post-dialysis rebound hyperglycemia and GV indices (standard deviation [SD] and %co-variant [%CoV]) were obtained from 11-point and 7-point self-monitoring blood glucose (SMBG) profiles during hemodialysis day (HD) and non-hemodialysis day (NHD). GV were analysed between HD vs. NHD in DM-ESRD patients as well as those with NDM-ESRD. Results: Mean blood glucose during dialysis-day was 9.33 [SD 2.7, %CoV 30.6%] mmol/L in DM-ESRD compared to 6.07 [SD 0.85, %CoV 21.3%] mmol/L in NDM-ESRD (p =<0.01). Post-dialysis rebound hyperglycaemia occurred in 71% of patients (n=105. This spike was pronounced in DM-ESRD compared to NDM-ESRD (83.5% vs. 53.6%; OR 4.39 [95% CI 2.05 – 9.42]). Significantly higher GV indices were observed in DM-ESRD compared to NDM-ESRD during HD and NHD day especially in group with HbA1c 8-10% (p= <0.01). Furthermore, GV indices tended to be higher on HD compared to NHD (p= <0.01). Asymptomatic hypoglycemia was observed in 18% of patients (n=21), mostly during first-hour of hemodialysis. Higher HbA1c levels and older age were the main factors contributing to higher post-dialysis rebound hyperglycemia and GV and in this study (p<0.05). Correlation between HbA1c and mean blood glucose in this population is moderate with r2 = 0.58. Conclusion: Diabetic patients on haemodialysis are at increased risk of post-dialysis rebound hyperglycemia and fluctuations in blood glucose on hemodialysis-days with high HbA1c level and old age being two significant contributing factors. Since this group of patients are vulnerable to CVD mortality urgent attention is needed to rectify it

Prevalence of glycemic variability and factors associated with the glycemic arrays among end-stage kidney disease patients on chronic hemodialysis

Glycemic variability (GV) confers a significantly higher risk of diabetic-related complications, especially cardiovascular. Despite extensive research in this area, data on end-stage kidney disease (ESKD) patients on chronic hemodialysis are scarce. This study aims to determine the magnitude of GV among ESKD (diabetic vs nondiabetic) patients and its associated factors on hemodialysis days (HDD) and non-hemodialysis days (NHDD) where postulation of a higher GV observed among diabetic on HDD. Werecruited 150 patients on hemodialysis, 93 patients with type 2 diabetic (DM-ESKD), and 57 with nondiabetic (NDM-ESKD). The GV indices (standard deviation [SD] and percentage coefficient variant [%CV]) were obtained from 11-point and 7-point selfmonitoring blood glucose (fasting to post-meal) (SMBG) profiles on HDD and NHDD. The GV indices and its associated factors of both DM-ESKD and NDM-ESKD were analyzed to compare HDD vs NHDD. Mean blood glucose on HDD was 9.33 [SD 2.7, %CV 30.6%] mmol/L in DM-ESKD compared with 6.07 [SD 0.85, %CV 21.3%] mmol/L in NDM-ESKD(P=<.01).TheDM-ESKDgroupexperiencedsignificantly above target GV indices compared to NDM-ESKD onbothHDDandNHDD,particularlyinthesubgroupwithHbA1c8–10%(P=<.01).Presenceofdiabetes,olderage,hyperlipidemia, HbA1c, ferritin levels, and albumin were identified as factors associated with GV. DM-ESKD patients have above-target GV indices, especially on HDD, therefore increasing their risk of developing future complications. We identified high HbA1c, older age group, presence of hyperlipidemia, ferritin levels, and albumin as factors associated with GV indices that may be used as surrogate markers for GV. Since these groups of patients are vulnerable to CVD mortality, urgent attention is needed to rectify it

Study protocol to develop a core outcome set for thyroid dysfunction to bridge the unmet needs of patient-centred care

INTRODUCTION: Thyroid dysfunctions (TD) are common medical conditions affecting all global populations. Improved healthcare leading to increasing survival rates and delayed diagnosis rendered significant burden of the disease in the increasing number of patients with TD with comorbid illnesses. Therefore, reducing the burden of TD and improving the quality of care are crucial. Existing poor-quality data that guide evidence-based decisions only provide a fragmented picture of clinical care. The different outcomes across studies assessing the effectiveness of treatments impede our ability to synthesise results for determining the most efficient treatments. This project aims to produce a core outcome set (COS), which embeds the multiple complex dimensions of routine clinical care for the effectiveness studies and clinical care of adult patients with TD. METHODS AND ANALYSIS: This mixed-method project has two phases. In phase 1, we will identify a list of patient-reported and clinical outcomes through qualitative research and systematic reviews. In phase 2, we will categorise the identified outcomes using the Core Outcome Measures in Effectiveness Trials taxonomy of core domains and the International Classification of Functioning, Disability and Health. We will develop questionnaires from the list of outcomes identified from each domain for the two-round online Delphi exercise, aiming to reach a consensus on the COS. The Delphi process will include patients, carers, researchers and healthcare participants. We will hold an online consensus meeting involving representatives of all key stakeholders to establish the final COS. ETHICS AND DISSEMINATION: The study has been reviewed and approved by the Ethics Committee for Research Involving Human Subjects, Universiti Putra Malaysia and the Research Ethics Committee, National University of Malaysia. This proposed COS in TD will improve the value of data, facilitate high-quality evidence synthesis and evidence-based decision-making. Furthermore, we will present the results to participants, in peer-reviewed academic journals and conferences. REGISTRATION DETAILS: Core Outcome Measures in Effectiveness Trials (COMET) Initiative database registration: http://www.comet-initiative.org/studies/details/137