Suspicious History Research Articles

Silent while living, speaks when dead- A case report of manual strangulation

Victim of throttling in majority of the cases die instantaneously as the perpetrator continues to apply pressure till death ensues. In certain cases, victim may survive for some time if pressure is withdrawn due to any reason. In such cases, after the incident, he/she may not be conscious or able to speak for giving history; but the injuries produced by application of pressure by palms and fingers, if looked for them carefully, may speak by themselves about the incident. Presenting here, a case of 52 years old female, where the “made-up” history by the relatives misdirected the thinking process of the clinicians as the patient could not speak at all at the time of admission to the hospital until death. Autopsy conducted on 5 day of hospitalization revealed typical signs of the homicidal act the victim was subjected to, which could have been identified in the “fresh” stage at the time of admission and could have helped in some more detailed medico legal investigations if it could have been referred to Forensic Medicine experts of the institute. This case report stresses on the need of multi-disciplinary approach at the time of treatment of any patient with suspicious history, to have some different angle of view with regards to medico legal concerns and hence, it is discussed here.

Analysis of 9 cases of drug induced hypersensitivity syndrome related hemophagocytic lymphohistiocytosis

Objective: To analyze the clinical features,treatment and prognosis of drug induced hypersensitivity syndrome related hemophagocytic lymphohistiocytosis (DIHS-HLH). Methods: This was a retrospective case study. Clinical characteristics, laboratory results, treatment and prognosis of 9 patients diagnosed with DIHS-HLH in Beijing Children's hospital between January 2020 and December 2022 were summarized. Kaplan-Meier survival analysis was used to calculate the overall survival rate. Results: Among all 9 cases, there were 6 males and 3 females, with the age ranged from 0.8 to 3.1 years. All patients had fever, rash, hepatomegaly and multiple lymph node enlargement. Other manifestations included splenomegaly (4 cases), pulmonary imaging abnormalities (6 cases), central nervous system symptoms (3 cases), and watery diarrhea (3 cases). Most patients showed high levels of soluble-CD25 (8 cases), hepatic dysfunction (7 cases) and hyperferritinemia (7 cases). Other laboratory abnormalities included hemophagocytosis in bone marrow (5 cases), hypofibrinogenemia (3 cases) and hypertriglyceridemia (2 cases). Ascending levels of interleukin (IL) 5, IL-8 and interferon-γ (IFN-γ) were detected in more than 6 patients. All patients received high dose intravenous immunoglobulin, corticosteroid and ruxolitinib, among which 4 patients were also treated with high dose methylprednisolone, 2 patients with etoposide and 2 patients with cyclosporin A. After following up for 0.2-38.6 months, 7 patients survived, and the 1-year overall survival rate was (78±14)%. Two patients who had no response to high dose immunoglobulin, methylprednisolone 2 mg/(kg·d) and ruxolitinib died. Watery diarrhea, increased levels of IL-5 and IL-8 and decreased IgM were more frequently in patients who did not survive. Conclusions: For children with fever, rash and a suspicious medication history, when complicated with hepatomegaly, impaired liver function and high levels of IL-5 and IL-8, DIHS-HLH should be considered. Once diagnosed with DIHS-HLH, suspicious drugs should be stopped immediately, and high dose intravenous immunoglobulin, corticosteroid and ruxolitinib could be used to control disease.

Anadoluda Süt Ürünleri ve Pediatrik Bruselloz

Introduction: The purpose of the study is to evaluate the follow-up and treatment outcomes of pediatric brucellosis cases who presented to our participating centers during the term and were diagnosed with brucellosis. Methods: The study, conducted with the support of participating centers in the Central Anatolia region, was completed in about 2 years. The results of patients diagnosed with brucellosis between 2018 and 2021 were retrospectively scanned. During this screening, patients with missing results in the system were excluded from the study. Results: According to the data collected from the participating centers, we included a total of 68 patients in our study who met our criteria after excluding those with incomplete information. These patients were between the ages of 5 and 17, with a mean age of 8.7±3.1 years. Our analysis of the patients' demographics revealed that they mostly resided in rural areas where unpasteurized milk and dairy products were commonly consumed. Although there were some patients from higher socioeconomic backgrounds who purchased organic products from local markets, the vast majority (90%) had a history of consuming unpasteurized milk and its by-products. In addition, a significant proportion (50%) of patients from rural areas had a family history of brucellosis. The most frequently reported symptom among patients was joint pain, which was present in 83% of cases. Elevated liver enzymes were the most common laboratory finding, affecting 32% of patients, while thrombocytopenia was the least common. The preferred treatment regimen for patients was doxycycline and rifampicin. Although aminoglycoside treatment was initially favored for inpatients (80%), it was not commonly prescribed for outpatients. Our analysis of the data revealed that only two patients experienced a relapse of the disease. While the overall treatment outcomes were successful, there was no statistically significant association between treatment preferences and disease recurrence. Conclusion: Every year, thousands of children in our country visit pediatric clinics complaining about joint pain. These patients are usually examined for extensive investigations. It should be remembered that with suspicious patient history and demography, brucellosis may be the answer under the symptoms, accompanied by elevated liver enzymes and cytopenia.

Unilateral Agenesis of the Internal Carotid Artery: A Report of Two Rare Cases

Background: Internal carotid artery (ICA) agenesis occurs when one or both of the blood vessels that supply blood to the brain do not develop. Congenital agenesis of the ICA rarely occurs. It is usually asymptomatic but may sometimes associate with neurological symptoms such as migraine and pulsatile tinnitus. Moreover, differentiating it from occlusion of ICA is important in patients with stroke. Case Report: We report two cases (63-years-old man and 69-year-old woman) of asymptomatic unilateral ICA agenesis who were referred to our cardiovascular hospital for coronary artery bypass graft. Due to a suspicious history of transient ischemic attack, the patients underwent carotid ultrasonography. With findings suggestive of unilateral ICA agenesis at color Doppler, patients underwent computed tomography angiography that confirmed the diagnosis. Conclusion: Suspecting ICA agenesis at color Doppler imaging of the neck and differentiating it from occluded ICA at CT angiography is important for correct diagnosis and management of the patients.

Predictors of major adverse cardiac events among patients with chest pain and low HEART score in the emergency department

AimFor patients who present to the emergency departments (ED) with undifferentiated chest pain, the risk of major adverse cardiac events (MACE) may be underestimated in low-HEART score patients. We aimed to identify characteristics of patients who were classified as low risk by HEART score but subsequently developed MACE at 6 weeks. MethodsWe studied a multiethnic cohort of patients who presented with chest pain arousing suspicion of acute coronary syndrome to EDs in the Netherlands and Singapore. Patients were risk-stratified using HEART score and followed up for MACE at 6 weeks. Risk factors of developing MACE despite low HEART scores (scores 0–3) were identified using logistic and Cox regression models. ResultsAmong 1376 (39.8%) patients with low HEART scores, 63 (4.6%) developed MACE at 6 weeks. More males (53/806, 6.6%) than females (10/570, 2.8%) with low HEART score developed MACE. There was no difference in outcomes between ethnic groups. Among low-HEART score patients with 2 points for history, 21% developed MACE. Among low-HEART score patients with 1 point for troponin, 50% developed MACE, while 100% of those with 2 points for troponin developed MACE. After adjusting for HEART score and potential confounders, male sex was independently associated with increased odds (OR 4.12, 95%CI 2.14–8.78) and hazards (HR 3.93, 95%CI 1.98–7.79) of developing MACE despite low HEART score. ConclusionMale sex, highly suspicious history and elevated troponin were disproportionately associated with MACE. These characteristics should prompt clinicians to consider further investigation before discharge.

HEART Score and Its Implementation in Emergency Medicine Departments in the West Balkan Region-A Pilot Study.

Chest pain represents a prevalent complaint in emergency departments (EDs), where the precise differentiation between acute coronary syndrome and alternative conditions assumes paramount significance. This pilot study aimed to assess the HEART score's implementation in West Balkan EDs. A retrospective analysis was performed on a prospective cohort comprising patients presenting with chest pain admitted to EDs in Sarajevo, Zenica, and Belgrade between July and December 2022. A total of 303 patients were included, with 128 classified as low-risk based on the HEART score and 175 classified as moderate-to-high-risk. The low-risk patients exhibited younger age and a lower prevalence of cardiovascular risk factors. Laboratory and anamnestic findings revealed higher levels of C-reactive protein, ALT, and creatinine, higher rates of moderately to highly suspicious chest pain history, a greater number of cardiovascular risk factors, and elevated troponin levels in moderate-to-high-risk patients. Comparatively, among patients with a low HEART score, 2.3% experienced MACE, whereas those with a moderate-to high-risk HEART score had a MACE rate of 10.2%. A moderate-to-high-risk HEART score demonstrated a sensitivity of 91.2% (95%CI 90.2-93.4%) and specificity of 46.5% (95%CI 39.9-48.3%) for predicting MACE. This pilot study offers preliminary insights into the integration of the HEART score within the emergency departments of the West Balkan region.

Clinical features of pediatric Danon disease and the importance of early diagnosis

Successful therapy in a cohort with early onset Danon disease (DD) highlights the potential importance of earlier disease recognition. We present experience from the largest National Pediatric Center in Russia for cardiomyopathy patients. This report focuses on identification of early clinical features of DD in the pediatric population by detailed pedigree analysis and review of medical records. ResultsNine patients (3 females) were identified with DD at the Russian National Medical Research Center of Children's Health (“National Pediatric Center”) aged birth to 16 years. At presentation/evaluation: all patients had left ventricular hypertrophy (LVH), ECG features of Wolff-Parkinson-White (WPW), and an increase in hepatic enzymes (particularly lactate dehydrogenase (LDH)); three had marked increase in NT-proBNP; two had HCM with impaired LV function; one had LVH with LV noncompaction; five had arrhythmia with paroxysmal supraventricular and/or ventricular tachycardia. Two teenagers died at ages 16–17 from refractory heart failure and two underwent heart transplantation. All patients were found to have a pathogenic/likely pathogenic variant in the LAMP2 gene, six patients had no family history and a de novo evolvement was documented in 4/6 of those available for genetic tested. Retrospective review related to family background and earlier clinical evaluations revealed a definitive or highly suspicious family history of DD in 3, early clinical presentation with cardiac abnormalities (ECG, echo) in 3, and cerebral, hepatic and/or neuromuscular symptoms in 5. Abnormalities were detected 9,5 months to 5,8 years, median 3,5 years prior to referral to the National Pediatric Center. ConclusionThe earliest clinical manifestations of Danon disease occur in the first 12 years of life with symptoms of skeletal muscle and cerebral disease, raised hepatic enzymes, and evidence of cardiac disease on ECG/echo.

History, ECG, Risk Factors (HER) Scoring for Cardiac Risk Stratification in Patients

Background Chest pain is a common chief complaint of patients presenting to the emergency department. Acute coronary syndrome (ACS) is found to be the etiology of this symptom in a minority of these patient encounters. This study aimed to determine the utility of using the History, ECG, Risk Factors (HER) components of theHistory, ECG, Age, Risk Factors, Troponin (HEART) score in ruling out 30-day Major Adverse Cardiac Event (MACE), ACS, ventricular tachycardia, and ventricular fibrillation in patients aged less than 45. Additionally, the utility of this score in ruling out a positive troponin was investigated as well. Methodology This is a retrospective chart review study that examined a consecutive cohort of 7,724 patients presenting with chest pain to the 11 emergency departments of a single healthcare system over a two-year period (January 2019 to December 2020). HER scores of 0 to 1 were categorized as negative (-) and scores of two or greater were categorized as positive (+). Sensitivity, specificity, and predictive values were calculated for the relationship between HER score positivity and primary cardiac disease and troponin results. Results Test characteristics of HER scoring for significant primary cardiac disease in patients between 18 and 45 years of age presenting with undifferentiated chest pain were sensitivity of 88.0 (CI = 80.0-94.0), specificity of 72.6 (CI = 71.8-73.8), positive predictive value of 3.1 (CI = 2.4-3.9), and negative predictive value of 99.8 (CI = 99.7-99.9). Furthermore, an HER score >1 was neither sensitive nor specific in predicting a positive troponin (sensitivity = 80, CI = 71.9-86; specificity = 71.3, CI = 70.3-72.3). However, the negative predictive value of an HER score of 0-1 was 99.5 (CI = 99.3-99.7) and the positive predictive value was 4.7 (CI = 3.9-5.7). Conclusions According to this study, when evaluating young patients who are deemed to have a subjectively non-highly suspicious history, who have minimal risk factors, and who have an ECG without significant ST deviation, troponin testing is low yield in the risk stratification of patients under the age of 45 for serious primary cardiac disease.

Why SWI? The sensitivity of susceptibility weighted imaging in aneurysmal subarachnoid haemorrhage in the chronic phase.

Incidentally detected unruptured intracranial aneurysms have a prevalence of 3% with some predisposed to rupture and others remaining static. Diagnostic knowledge of previous aneurysmal subarachnoid haemorrhage (ASAH) in the chronic phase could identify patients requiring treatment. To assess the sensitivity of susceptibility weighted imaging (SWI) in the detection of ASAH at 3 months post ictus and determine any influencing effects. A retrospective chart analysis of 46 patients with ASAH who underwent post-embolisation SWI imaging at 3 months. The SWI and available initial CT brain scans or CT reports were evaluated and correlated with patient demographics and clinical severity. Susceptibility weighted imaging indicated a sensitivity of 95.7% in the detection of ASAH at 3 months. Increased number of haemosiderin zones on SWI correlated with older patient age (p = 0.0003). Clinical severity (World Federation Neurosurgical Societies Score) showed a tendency towards a statistically relevant relationship (p = 0.07). No statistically significant relationship was identified between the number of haemosiderin zones and initial CT modified Fisher score (p = 0.34) or the causative aneurysm location (p = 0.37). Susceptibility weighted imaging is sensitive in the detection of ASAH at 3 months, increasing in sensitivity with patient age and higher initial clinical severity. In patients presenting in the subacute to chronic phase with a clinically suspicious history of previous aneurysm rupture but without convincing CT or spectrophotometry evidence, SWI can detect previous rupture. This can identify patients who could benefit from endovascular treatment and those who can safely undergo follow-up imaging.

Frequency of breast cancer in palpable breast lump

Background: Breast cancer is one of the most common types of cancer in women. In the past few decades, its prevalence has increased exponentially. Aim: To evaluate the frequency of breast cancer in our setup. Method: A descriptive cross-sectional study was conducted at K.V.S.S. SITE Hospital, Karachi for the period of 6 months from January 2022 to June 2022. The sample size for this study was 95 patients.The tru-cut biopsy was performed, using a tru-cut gun on patients with BI-RADS 3 clinically suspicious and family history positive.The data obtained was analyzed on the latest version of the SPSS Statistics version 26 (IBM Corp., Armonk, NY, USA). The frequency and percentages of the categorical variables were calculated. Result: A total of 95 female patients presented with palpable breast lumps. The age group presented most commonly with the lump was 32-42 years (40%).The variables like smoking, drinking, raised BMI, history of any cancer, family history of breast or any other cancer, and oral contraceptive use were found to be statistically significantly associated with the malignancy related to the breast (p <0.001). Practical implicaion: This study provides the incidence of the breast cancer which will help the doctors assess every women presenting with the breast lump and provide the required treatment early so that worst outcomes can be avoided. Conclusion: The palpable breast lump should be assessed on an immediate basis and further workup should be conducted in such patients for early diagnosis and improved treatment of the breast cancer. Keywords: Breast lump, Breast cancer, Breast biospy, frequency of breast lump, young women, family history

Prevalent Estimates of HIV/AIDS in Chronically Ill patients admitted in JPMC Karachi Pakistan

Objective: To find out the prevalence of HIV/AIDS in chronically ill patients admitted in tertiary care hospital JPMC(Jinnah Postgraduate Medical Centre) Karachi. Study design & place: This cross-sectional study was conducted at JPMC during the June, 2021 to April, 2022. Materials & Methods: A total of 500 patient age ≥18 years having highly suspicious history & symptoms of HIV/AIDS, admitted in Medical & pulmonology department were included in this study. A well-structured questionnaire was used to obtain background characteristics, clinical symptoms; history of high risk behaviors and I/V drug use of all participants was collected. Confidentiality was assured of all participants given unique identification number. Data was analyzed by using Statistical Package for Social Sciences version 21 (SPSS 21). Results: A total of 500 patients comprised of 373 (74.6%) male and 127 (25.4%) female, male to female ratio was 2.93:1. The mean age was 33.5 ± 12.78 years (18 to 83 years). We observed that most of patients belong with history of blood transfusion, 160 (32%) followed by I/V drug user 130 (26%) and sexual contact 96 (19.2%) cases. Out of 500 study participants, 29(5.8%) subjects were HIV/AIDS positive. The results of this study will provide information and awareness about the transmission of HIV in community. The study revealed that the blood transfusion is a significant risk factor in transmission of HIV. The findings of current study will help doctors for postoperative pain treatment following major abdominal surgery. Acute pain management in hospitals faces some significant obstacles, according to a recent review on postoperative pain management procedures in tertiary care facilities center. Conclusion: Most of the chronically ill patients admitted were men who had been diagnosed with HIV/AIDS. Blood transfusion history, intravenous drug use, and multiple sex partners were important risk factors. There is a need to create awareness among the general public about the risk factors for HIV/AIDS to decelerate the spread of this deadly disease. Keywords: AIDS Acquired immunodeficiency syndrome Chronic diseases, HIV Human Immunodeficiency Virus, Injecting drug user, Multiple sex partners, JPMC Jinnah Postgraduate Medical Centre

What can we learn from more than 1,000 Brazilian patients at risk of hereditary cancer?

BackgroundIdentifying individuals at a higher risk of developing cancer is a major concern for healthcare providers. Cancer predisposition syndromes are the underlying cause of cancer aggregation and young-onset tumors in many families. Germline genetic testing is underused due to lack of access, but Brazilian germline data associated with cancer predisposition syndromes are needed.MethodsMedical records of patients referred for genetic counseling at the Oncogenetics Department at the Hospital Sírio-Libanês (Brasília, DF, Brazil) from July 2017 to January 2021 were reviewed. The clinical features and germline findings were described. Detection rates of germline pathogenic/likely pathogenic variant (P/LPV) carriers were compared between international and Brazilian guidelines for genetic testing.ResultsA total of 1,091 individuals from 985 families were included in this study. Most patients (93.5%) had a family history of cancer, including 64% with a family member under 50 with cancer. Sixty-six percent of patients (720/1091) had a personal history of cancer. Young-onset cancers (<50 years old) represented 62% of the patients affected by cancer and 17% had multiple primary cancers. The cohort included patients with 30 different cancer types. Breast cancer was the most prevalent type of cancer (52.6%). Germline testing included multigene panel (89.3%) and family variant testing (8.9%). Approximately 27% (236/879) of the tested patients harbored germline P/LPVs in cancer susceptibility genes. BRCA2, BRCA1, and TP53 were the most frequently reported genes, corresponding to 18.6%, 14.4%, and 13.5% of the positive results, respectively. Genetic testing criteria from international guidelines were more effective in identifying carriers than the Brazilian National Agency of Supplementary Health (ANS) criteria (92% vs. 72%, p<0.001). Forty-six percent of the cancer-unaffected patients who harbored a germline P/LPV (45/98) would not be eligible for genetic testing according to ANS because they did not have a family variant previously identified in a cancer-affected relative.ConclusionThe high detection rate of P/LPVs in the present study is possibly related to the genetic testing approach with multigene panels and cohort’s characteristics, represented mainly by individuals with a personal or family history of young-onset cancer. Testing asymptomatic individuals with suspicious family history may also have contributed to a higher detection rate. A significant number of carriers would not have been identified using ANS criteria for genetic testing.

A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland.

In the Republic ofIreland(ROI), BRCA1/BRCA2 genetic testing has been traditionally undertaken in eligible individuals, after pre-test counselling by a Clinical Geneticist/Genetic Counsellor. Clinical Genetics services in ROI are poorly resourced, with routine waiting times for appointments at the time of this pilotoften extending beyond a year. The consequent prolonged waiting times are unacceptable where therapeutic decision-making depends on the patient's BRCA status. "Mainstreaming" BRCA1/BRCA2 testing through routine oncology/surgical clinics has been implemented successfully in other centres in the UK and internationally. We aimed to pilot this pathway in three Irish tertiary centres. A service evaluation project was undertaken over a 6-month period between January and July 2017. Eligible patients, fulfilling pathology and age-based inclusion criteria defined by TGL clinical, were identified, and offered constitutional BRCA1/BRCA2 testing after pre-test counsellingby treating clinicians. Tests were undertaken by TGL Clinical. Results were returned to clinicians by secure email. Onward referrals of patients with uncertain/pathogenic results, or suspicious family histories, to Clinical Genetics were made by the treating team. Surveys assessing patient and clinician satisfaction were sent to participating clinicians and a sample of participatingpatients. Data was collected with respect to diagnostic yield, turnaround time, onward referral rates, and patient and clinician feedback. A total of 101 patients underwent diagnostic germline BRCA1/BRCA2 tests through this pathway. Pathogenic variants were identified in 12 patients (12%). All patients in whom variants were identified were appropriately referred to Clinical Genetics. At least 12 additional patients with uninformative BRCA1/BRCA2 tests were also referred for formal assessment by Clinical Geneticist or Genetic Counsellor. Issues were noted in terms of time pressures and communication of results to patients. Results from a representative sample of participants completing the satisfaction survey indicated that the pathway was acceptable to patients and clinicians. Mainstreaming of constitutional BRCA1/BRCA2 testing guided by age- and pathology-based criteria is potentially feasible for patients with breast cancer as well as patients with ovarian cancer in Ireland.

Magnetic resonance imaging findings of two cases with West syndrome and hypomelanosis of Ito with hemimegalencephaly: a report of two cases

BackgroundHemimegalencephaly is an unusual congenital non-familial malformation of the brain which is characterized by enlargement of the whole or part of one hemisphere due to neural proliferation and dysfunction in the cell migration. The brain stem and cerebellum may also be involved. There are also the common cortical malformation, unusual white matter proliferation, gliosis, and abnormal myelination in hemimegalencephaly. In addition, structural brain abnormalities like atrophy/hypertrophy, demyelination, gliosis, increased thickness of the cortical grey matter, increase signal intensity in the subcortical white matter, abnormal gyral patterns, blurring of the grey-white matter transition, and hamartomatous aspect can be observed on magnetic resonance imaging.Case presentationTwo patients who underwent brain magnetic resonance imaging because of West syndrome and hypomelanosis of Ito were diagnosed as hemimegalencephaly. The first case was a 9-day-old male patient initially diagnosed with West syndrome. On the brain magnetic resonance imaging performed for epilepsy, right total hemimegalencephaly, diffuse polymicrogyria, and heterotopic grey matter foci on the right hemisphere were observed. In addition, right cerebellar dysgenesis, upward angulation in the lateral ventricle's anterior horn, and colpocephalic dilatation in the posterior horn were evident. The second case was a 2-year-old female patient with hypomelanosis of Ito disease. The main reason for her parents' hospital visit was the shortness of the right leg. Initial examination showed the hypopigmented lesions on the right side and hemihypertrophy in the left leg. Brain magnetic resonance imaging revealed mild hemimegalencephaly in the right cerebral hemisphere, T1-weighted isointense, T2-weighted hyperintense white matter lesions extending from the basal ganglia to the ventricular body and the periventricular fronto-parieto-occipital white matter, and dilatation of the lateral ventricle.ConclusionsHemimegalencephaly is a rare condition which may accompany syndromic cases with epilepsy or neurocutaneous disease. Brain magnetic resonance imaging should be performed in patients with a suspicious medical history in order to make the correct diagnosis of hemimegalencephaly and to determine the severity of brain involvement, if any.

Economic Burden and Influencing Factors of Acute Gastroenteritis in China: A Population-Based Face to Face Survey in 2018.

BackgroundAcute gastroenteritis is an important and highly prevalent public health problem worldwide. The purpose of this study was to assess the economic burden of disease and its influencing factors in patients with acute gastroenteritis in Heilongjiang Province, China.MethodsA multi-stage stratified random sampling method was used in a face-to-face household survey in 2018. Demographic and socioeconomic characteristics, clinical symptoms, suspicious dietary history, and disease treatment information were collected from 19,647 respondents. One-way analysis of variance and multiple stepwise regression analysis were used to investigate the factors associated with the economic burden of acute gastroenteritis. Quantitative risk analysis and sensitivity analysis were performed to estimate the uncertainty and risk factors of the economic burden of acute gastroenteritis.ResultsThe total economic burden of patients with acute gastroenteritis was 63,969.22 CNY (Chinese Yuan), of which the direct economic burden accounted for 63.82%; the per capita economic burden was 131.35 CNY per month. Age, region, disease duration, and disease treatment were the main factors significantly associated with the economic burden of acute gastroenteritis (P < 0.05). The average economic burden of patients with acute gastroenteritis was approximately 571.84 CNY/person (95% CI: 227–1,459). Sensitivity analysis showed that the greatest impact was from the indirect economic burden.ConclusionsAcute gastroenteritis brings a substantial health burden to patients due to its high incidence. The economic burden of self-purchased drugs and the indirect economic burden of patients cannot be ignored. To better estimate the economic burden of acute gastroenteritis in China, further studies on the pathogen-specific economic burden of acute gastroenteritis are required.

A novel MPZL2 c.68delC variant is associated with progressive hearing loss in Chinese population and literature review.

ObjectiveThe aim of this study was to identify genetic etiology in two unrelated Chinese probands with progressive sensorineural hearing loss.MethodsTwo unrelated Chinese families were recruited. Genetic etiology was identified by targeted next‐generation sequencing (NGS) and verified by Sanger sequencing. Hearing evaluations included pure tone audiometry, auditory brainstem response to clicks, and otoscopic examination. Medical history and computerized tomography scan of temporal bone were also collected. In addition, linear regression was used to summarize all of the reported cases and estimate the progression of hearing loss.ResultsA 28‐year‐old man with variant c.68delC had progressive, moderately severe hearing loss and a suspicious history of renal impairment. His hearing result was 63.75 dB HL. The other proband was the youngest patient with MPZL2‐related hearing loss reported so far in the literature (genotype: c.220C>T homozygote). Her hearing result by click‐ABR was 25 dB nHL at 3 months of age, and deteriorated to 40 dB nHL at 15 months. Behavioral audiometry identified a hearing loss of 26.25 dB HL. In summarizing all of the reported cases, using linear regression, MPZL2‐related hearing loss may deteriorate by 0.59 dB HL per year, and different MPZL2 variants may lead to different rates of progression.ConclusionIn this study, we first identified two unrelated patients with MPZL2‐related hearing loss in Chinese population, and a novel variant c.68delC. Our results expanded the mutation spectrum of deafness genes. Further studies are required to clarify the genotype–phenotype correlation and the progression of MPZL2‐related hearing loss.

Myocardial infarction in normal coronary artery (MINCA): Death in healthy military personnel

Sudden unexpected death among healthy military personnel leads to a false allegation from family members. However, majority of the deaths were related to an abnormal cardiac condition. Objective: The occurrence of patent coronary vessels in sudden deaths demands histological examination and/or molecular study to detect underlying diseases, which need to be highlighted especially in a centre with limitation of post-mortem computed tomography (PMCT) or virtopsy. In this article, a case of a young healthy male personnel, who died during routine training was reported. He collapsed after a 10-minute jog. An autopsy was performed to determine the cause of death. The autopsy showed a moderately built male. No fatal external injuries were found. Internal examination showed cardiomegaly and patent coronaries. The cardiac markers were markedly raised with normal toxicological analysis. Histology of the heart showed a recent myocardial infarct, hence the cause of death was determined as myocardial infarction in normal coronary artery (MINCA). Conclusion: Annual medical screening is highly recommended to detect any cardiac abnormalities among military personnel. Screening may be extended for a genetic study in suspicious and strong family history to exclude a conduction defect or channelopathy.

Identification of a novel hepatocyte nuclear factor-1 alpha (HNF1A) variant in maturity onset diabetes of the young type 3 (HNF1A-MODY).

SummaryWe identified an adolescent young woman with new-onset diabetes. Due to suspicious family history, she underwent genetic testing for common monogenic diabetes (MODY) genes. We discovered that she and her father carry a novel variant of uncertain significance in the HNF1A gene. She was successfully transitioned from insulin to a sulfonylurea with excellent glycemic control. Based on her family history and successful response to sulfonylurea, we propose that this is a novel pathogenic variant in HNF1A. This case highlights the utility of genetic testing for MODY, which has the potential to help affected patients control their diabetes without insulin.Learning pointsHNF1A mutations are a common cause of monogenic diabetes in patients presenting with early-onset diabetes and significant family history.Genetic testing in suspected patients allows for the identification of mutations causing monogenic diabetes.First-degree relatives of the affected individual should be considered for genetic testing.The use of sulfonylurea agents in patients with HNF1A-MODY can reduce dependence on insulin therapy and provide successful glycemic control.

A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life

Introduction: Pseudohypoaldosteronism type II (PHA II) is a Mendelian disorder, featuring hyperkalemic acidosis and low plasma renin levels, typically associated with hypertension. Mutations in WNK1, WNK4, CUL3, and KLHL3 cause PHA II, with dominant mutations in WNK1, WNK4, and CUL3 and either dominant or recessive mutations in KLHL3. Fourteen families with recessive KLHL3 mutations have been reported, with diagnosis at the age of 3 months to 56 years, typically in individuals with normal kidney function. Methods: We performed clinical and genetic investigations in a patient with hyperkalemic hypertension and used molecular dynamics simulations, heterologous expression in COS7 cells, and Western blotting to investigate the effect of a KLHL3 candidate disease mutation on WNK4 protein expression. Results: The patient, a 58-year-old woman from a consanguineous family, showed hypertension, persistent hyperkalemic acidosis associated with severe muscle pain, nephrolithiasis, chronic kidney disease (CKD), and coronary heart disease. Therapy with hydrochlorothiazide corrected hyperkalemia, hypertension, and muscle pain. Genetic analysis revealed a homozygous p.Arg431Trp mutation at a highly conserved KLHL3 position. Simulations suggested reduced stability of the mutant protein, which was confirmed by Western blot. Compared with wild-type KLHL3, cotransfection of p.Arg431Trp KLHL3 led to increased WNK4 protein levels, inferred to cause increased NaCl reabsorption via the thiazide-sensitive carrier and PHA II. Conclusions: Even in patients presenting late in life and in the presence of CKD, PHA II should be suspected if renin levels are low and hyperkalemic acidosis and hypertension are inadequate for CKD stage, particularly in the presence of a suspicious family history.

Dermatomyositis following COVID-19 infection

IntroductionViruses have been shown to reveal autoimmune diseases like type1 diabetes and systemic connectivities like dermatomyositis (DM). Coronavirus disease 2019 (COVID-19) is best known for its respiratory symptoms but multiple systems could be affected in acute or post COVID-19 infection period. Clinical dermatomyositis following COVID-19 infection was exceptionally reported.ObservationWe report a case of a 61-year- woman with no medical history observed in March 2021 with bilateral edema. Doppler ultrasound demonstrated a superficial venous thrombosis of saphenous veins. The patient had a suspicious epidemiological history, and her chest CT scans showed lung damage similar to that caused by COVID-19. PCR test for Coronavirus confirmed the infection. She was treated by curative anticoagulation, steroids and oxygen therapy. Two months after her leaving, she was presented in internal medicine's department with pulmonary embolism despite good anti coagulation. Her PCR test for Coronavirus was negative. At her admission, she was complained of asthenia weight loss and pain in scapular and pelvic muscles. Physical examination revealed erythematous patches with edema in periorbital areas. Chest auscultation found bilateral basal lung crepitation. Bilateral proximal muscle weakness in upper and lower extremities was objectified. Oral examination found ulcerations in the lower gingiva. We found signs of arthritis in wrists and proximal interphalangeal joints. Biological tests showed anemia (hemoglobin =8.6 g/dl), accelerated erythrocyte sedimentation rate (65 mm H1) ; high C-reactive protein(119 mg/l)d biological myolysis and cytolydid (Creatinin kinase = 1052 U/l, LDH = 478 AST/ALT 238 U/l/119 U/l). Infectious investigations including HCV, HBV and HIV serology were negative. Thyroid function test was in normal range. Neoplastic research was negative. Immunologic analysis revealed positive antinuclear antibodies (ANA) with anti JO1 antibodies. Anti cardiolipin antibodies and kit-myositis were negatives. Electromyographic findings revealed inflammatory myositis. The patient was treated by high doses of steroids then progressively decreased. Good progress was noticed.ConclusionDermatomyositis is an inflammatory myopathy relatively rare. An elevation of its incidence was noticed during the pandemic period coinciding of corona virus [1]. Viral infections could induce autoimmunity and may be the eliciting event in the pathogenesis of myositis [2]. In our case, dermatomyositis is hypothetically linked to viral trigger on the background of genetic predisposition. The spectrum of complications following COVID-19 is broad but incidence is too rare including Idiopathic thrombocytopenic purpura, Guillain-Barré syndrome and autoimmune haemolytic anaemia recorded in 1, 5 and 7 patients respectively, 4–13 days following onset of COVID-19 symptoms. We assume that true dermatomyositis, triggered by COVID-19 may occur and the immunopathogenicity is via type 1 IFN pathway. Tanboon et al. commented that 58-year-old COVID-19 patient reported to have myositis may actually have dermatomyositis.