Severe Vomiting Research Articles

Serotonin Receptors Polymorphisms Are Associated With Cyclic Vomiting Syndrome.

Cyclic vomiting syndrome (CVS) is a disorder characterized by sudden, recurrent episodes of severe nausea and vomiting. The pathophysiology of CVS is not known but genetic factors that regulate emetic neurocircuitry have been proposed. The aim of this study was to investigate whether different variations in genes encoding serotonin receptors (HTRs) are associated with susceptibility to CVS and/or CVS symptoms. This case-control study included 70 patients with CVS:16 male and 54 female, and 2504 healthy controls from the 1000 Genomes Project database. Single-nucleotide polymorphisms (SNPs) in genes encoding serotonin receptors (HTR1B, HTR1D, HTR3B and HTR3C) and correlations between SNPs and the symptoms of CVS were determined. Our study discovered that patients with GG, AA and GG genotypes of HTR1B/D rs6296, rs6298 and rs6300, respectively, as well as the CC genotype of HTR3B rs176744 are associated with an increased risk (p < 0.001), whereas allele C in rs3788987 (HTR3B, p < 0.01) and allele A in rs6766410 (HTR3C, p < 0.05) were associated with a decreased risk of CVS. In addition, statistical analysis indicated that CVS patients with GA or AA genotypes of HTR1D rs676643 gene have a seven-fold increase in risk of depression compared to patients with GG genotype (p < 0.01). Our study revealed for the first time that variations in 5-HTR genes may contribute to CVS susceptibility and CVS-related symptoms.

Concurrent Emphysematous Gastritis and Small Bowel Ischemia Induced by Methamphetamine Abuse

Methamphetamine abuse poses significant health risks, including cardiovascular and cerebrovascular events. Herein is presented a young woman with chronic amphetamine abuse having developed severe abdominal pain and vomiting. Investigations revealed emphysematous gastritis and small bowel ischemia, leading to rapid deterioration and death despite aggressive intervention. This unique case underscores the need for early recognition and intervention to prevent the life-threatening consequences of methamphetamine abuse. The concurrent occurrence of emphysematous gastritis and small bowel ischemia has not been, to our knowledge, previously documented in methamphetamine users, highlighting the importance of clinician vigilance as abuse rates rise.

Thyroid Storm Triggered by Rotavirus Infection in a 10‐Year‐Old Girl

We encountered a case of Graves’ disease in a pediatric patient who presented with thyroid storm (TS), the onset of which was triggered by rotavirus infection. Rotavirus is commonly associated with severe watery diarrhea, vomiting, fever, and dehydration—particularly in infants and young children. In more severe cases, it can also lead to altered consciousness and seizures. These symptoms can resemble those of TS, even in the absence of pre‐existing hyperthyroidism. In cases of hyperthyroidism, these symptoms confirm the criteria for TS. Therefore, it is possible that some cases of TS are triggered and caused by gastrointestinal conditions such as rotavirus infection. Our case highlights the need for further investigation into the potential triggering pathogens in patients with TS to better clarify details regarding the patient’s status or disease pathogenesis.

Exploring the Physical and Mental Health Challenges of Teenage Pregnancy: A Qualitative Study in the Tamale Metropolis, Ghana

Objective: Teenage pregnancy poses significant public health challenges globally, particularly affecting the physical and mental well-being of adolescent girls. Despite a global decline in teenage birth rates, regions like sub-Saharan Africa continue to experience high prevalence. In Ghana's Tamale metropolis, teenage pregnancy rates have shown a concerning rise, underscoring the need for an in-depth exploration of its multifaceted impacts. This study aims to explore the physical and mental health effects of teenage pregnancy in the Tamale metropolis, capturing their personal experiences and coping mechanisms. Materials and methods: Employing a qualitative exploratory descriptive design, the study conducted a focus group discussion with 10 first-time teenage mothers aged 13–19 whose babies were less than 1 month. Participants were purposively sampled from antenatal records across five Community-based Health Planning and Services (CHPS) compounds. Discussions, guided by the socioecological model, were transcribed, translated, and thematically analyzed using NVivo software. Results: Participants reported numerous physical health challenges, including severe nausea, vomiting, exhaustion, musculoskeletal pain, and infections like candidiasis. Mental health struggles encompass feelings of sadness, irritability, anxiety, and societal-induced stress. Coping strategies varied, with reliance on trusted individuals, avoidance of social situations, support from healthcare professionals, and family backing emerging as predominant themes. Conclusion: This study revealed profound physical and mental health challenges compounded by societal stigma and limited resources. Strengthening social support networks, reducing stigma, and promoting patient-centered care are imperative. Targeted interventions are also essential to enhance health outcomes for these young mothers and their children.

A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism Due to a Novel Homozygous Variant in the SCNN1B Gene.

Pseudohypoaldosteronism (PHA) is a rare disorder that, if not promptly recognized and treated, can lead to life-threatening hyperkalemia resulting in cardiac arrest and death. Systemic PHA is caused by variants that deactivate the epithelial sodium channel (ENaC) subunits. Management is challenging due to high-dose oral replacement therapy, and patients with systemic PHA require lifelong treatment. Here, we present the clinical course of a newborn diagnosed with PHA at 7 days of age due to severe dehydration, inadequate feeding, vomiting, and lethargy. The patient was found to be homozygous for the variant c.1234dup (p.Glu412Glyfs*39) in exon 8 of the SCNN1B gene. The patient had multiple hospitalizations during follow-up and died at the age of 10 months due to pneumonia. Maintaining a high clinical suspicion for PHA is crucial for initiating treatment and preventing potential cardiac arrest and death in these patients. Further research is needed to determine the significance of such novel mutations in this disease.

Multi-ancestry GWAS of severe pregnancy nausea and vomiting identifies risk loci associated with appetite, insulin signaling, and brain plasticity.

While most pregnancies are affected by nausea and vomiting, hyperemesis gravidarum (HG) is at the severe end of the clinical spectrum and is associated with dehydration, undernutrition, and adverse maternal, fetal, and child outcomes. Herein we performed a multi-ancestry genome-wide association study (GWAS) of severe nausea and vomiting of pregnancy of 10,974 cases and 461,461 controls across European, Asian, African, and Latino ancestries. We identified ten significantly associated loci, of which six were novel (SLITRK1, SYN3, IGSF11, FSHB, TCF7L2, and CDH9), and confirmed previous genome-wide significant associations with risk genes GDF15, IGFBP7, PGR, and GFRAL. In a spatiotemporal analysis of placental development, GDF15 and TCF7L2 were expressed primarily in extra villous trophoblast, and using a weighted linear model of maternal, paternal, and fetal effects, we confirmed opposing effects for GDF15 between maternal and fetal genotype. Conversely, IGFBP7 and PGR were primarily expressed in developing maternal spiral arteries during placentation, with effects limited to the maternal genome. Risk loci were found to be under significant evolutionary selection, with the strongest effects on nausea and vomiting mid-pregnancy. Selected loci were associated with abnormal pregnancy weight gain, pregnancy duration, birth weight, head circumference, and pre-eclampsia. Potential roles for candidate genes in appetite, insulin signaling, and brain plasticity provide new pathways to explore etiological mechanisms and novel therapeutic avenues.

Anterior communicating artery aneurysm microsurgery resulted in a proximal pseudoaneurysm

Intracranial pseudoaneurysms (IPAs), characterized by compromised vessel wall layers, represent &lt;1% of all intracranial aneurysms. They often materialize along the vessel wall and are vulnerable to rupture, resulting in a mortality rate of up to 50%. Treatment is complex due to the fragility of pseudoaneurysms, the absence of a suitable surgical neck, and frequently associated intracranial atherosclerosis and calcification. This study reports a rare instance of an IPA following a microsurgical clipping of an intracranial aneurysm. A 48-year-old male with severe headache, vomiting, and brief unconsciousness was diagnosed with a ruptured anterior communicating artery aneurysm. After successful microsurgical clipping, a follow-up computed tomography angiogram revealed a new aneurysmal dilation on the anterior aspect of the pre-bifurcation segment of the right internal carotid artery (ICA). A subsequent craniotomy was performed to address the ICA pseudoaneurysm. Owing to the calcification surrounding the pseudoaneurysm, it was safeguarded with crushed muscle and cellulose fabric. Follow-ups showed no pseudoaneurysm enlargement, and the patient recovered with no neurological deficits. Iatrogenic IPAs post-aneurysmal clipping are exceptionally rare yet dangerous entities necessitating rapid intervention to minimize morbidity and mortality. Tailoring treatment modalities based on patient-specific characteristics, lesion attributes, and surgical expertise is fundamental. A cautious follow-up regimen is also suggested to monitor the pseudoaneurysm’s dimensions effectively.

Surgical strategies for hemorrhagic vestibular schwannoma with acute neurological decline: a case report with a literature review

Introduction and importance: Vestibular schwannomas (VSs) are benign tumors of cranial nerve VIII, comprising 8% of primary intracranial neoplasms. Hemorrhagic VSs, though rare, present unique clinical challenges due to their potential for rapid neurological decline. Case presentation: We present a case of a 68-year-old male with sudden severe headache, nausea, vomiting, and balance issues, initially diagnosed with a hematoma at the right cerebellopontine angle until an magnetic resonance imaging (MRI) scan verified a bleeding schwannoma. Due to deteriorating neurological status and signs of obstructive hydrocephalus on computed tomography (CT), urgent neurosurgical neuromonitoring, successfully managed the hemorrhagic VS, with postoperative recovery intervention required. Neurosurgical treatment, guided by intraoperative outcomes, restoring normal life. Urgent transfer to a medical center with a neurosurgical showing favorable outcomes. Clinical discussion: Cerebellopontine hematoma verified by CT mandates MRI to exclude tumorous bleeding, which is crucial in cases lacking prior MRI. Conclusion: Though rare, hemorrhagic VS must be considered in neurologically decompensated patients, especially with risk factors. Timely surgical intervention, despite precipitating a comatose state, can yield satisfactory results.

Acute renal infarction as an unusual presentation of hypertensive crisis in an elder female patient: a case report and literature review

Introduction and importance: Acute renal infarction is a rare condition characterized by the obstruction of renal arteries, leading to ischemia and infarction of the renal tissue. It is often underdiagnosed and can present with acute abdominal pain. Case presentation: A 70-year-old female with a 1-year history of hypertension presented to the emergency room with severe sharp flank pain and vomiting of 8 hours duration. She had no comorbidities and was taking Amlodipine 10 mg for hypertension. Vital signs revealed severely elevated blood pressure (230/180 mmHg) and a pulse rate of 98 bpm. Clinical examination showed tenderness over the right kidney without signs of abdominal guarding. Renal function was normal, and there were no signs of systemic inflammation. Imaging studies, including abdominal ultrasound and contrast-enhanced CT, confirmed the diagnosis of unilateral renal infarction. Clinical discussion: A multidisciplinary team, including Internal Medicine, Cardiovascular Surgery, Urology, and Interventional Radiology, convened to discuss the treatment approach. Considering the duration of symptoms and the preserved renal parenchyma, revascularization was not pursued. The patient was admitted and started on therapeutic dose low molecular heparin for anticoagulation. Blood pressure was controlled using intravenous Labetalol. The patient showed significant clinical improvement and was discharged on apixaban and Amlodipine. Follow-up lab tests after 1 month demonstrated normal kidney function. Conclusion: This case highlights the importance of considering renal infarction in the differential diagnosis of acute abdominal pain, especially in hypertensive patients. Early recognition and appropriate management are crucial for preventing complications and preserving renal function.

Reduction of Postoperative Nausea and Vomiting with Spinal Anesthesia: Using Complementary Therapy Peppermint and Lavender Aromatherapy

Nausea and vomiting are common occurrences after surgery with spinal anesthesia, which can lead to complications and delay recovery. Hypotension associated with spinal, epidural, and combined spinal-epidural anesthesia was a significant factor contributing to PONV. This study aimed to determine the difference in effectiveness between peppermint and lavender aromatherapy in reducing postoperative nausea and vomiting in patients with spinal anesthesia. The study used a one-group pre-posttest design with a control group. The research sample consisted of at least 12 respondents in each group, resulting in 36 respondents, selected using a random sampling technique with a spinner wheel. Inclusion criteria were respondents who experienced moderate to severe nausea and vomiting (scores 9–24). This study utilized the Rhodes Index Nausea, Vomiting &amp; Retching (RINVR) instrument to measure the level of nausea and vomiting scores over 6 hours. Mann whitney test result, the P value of peppermint aromatherapy is smaller than alpha (0.003 &lt;0.05), the P value of lavender aromatherapy is smaller than alpha (0.017 &lt;0.05) and the P value of post aromatherapy peppermint and lavender is smaller than alpha (0.00 &lt;0.05), which means there is a difference in effectiveness between peppermint and lavender aromatherapy on reducing nausea and vomiting. Peppermint aromatherapy is more effective than lavender in reducing nausea vomiting because the refreshing effect of peppermint is preferred by respondents, making them more relaxed and reducing nausea vomiting.

Pengaruh Kombinasi Aromaterapi Lemon Dan Akupresur Terhadap Penurunan Mual dan Muntah Pada Ibu Hamil Trimester I di Praktek Mandiri Bidan Suryati Kabupaten Jayapura

Nausea and vomiting are common symptoms experienced by pregnant women, especially in the first trimester, and can interfere with the quality of life and well-being of the mother. Although this condition is often considered normal, excessive nausea and vomiting can lead to dehydration, electrolyte imbalance, and weight loss, which is a risk to the health of the mother and fetus. The combination of lemon aromatherapy and acupressure has long been known as a non-invasive method that can help reduce nausea and vomiting. The purpose of the study was to evaluate the effect of the combination of lemon aromatherapy and acupressure on the reduction of nausea and vomiting in pregnant women in the first trimester at the Suryati Midwifery Independent Practice, Jayapura Regency. The results showed that before the intervention was given, the majority of respondents in the intervention and control groups experienced nausea and vomiting in the moderate and severe categories. After the intervention for 7 days with a frequency of 3 times a day, the intervention group experienced a significant decrease in the rate of nausea and vomiting, switching to the moderate and mild categories. In contrast, the control group that did not receive the intervention showed no significant change, with the majority remaining in the category of moderate and severe nausea and vomiting. Statistical analysis showed that there was a significant difference in the intervention group with a p-value of 0.001 (p &lt; 0.05), while there was no significant difference in the control group (p-value 0.564). These findings confirm the effectiveness of the combination of lemon aromatherapy and acupressure as a safe and effective alternative in reducing nausea and vomiting in pregnant women in the first trimester.

Thematic analysis of X (Twitter) users’ experiences of Hyperemesis Gravidarum (HG)

ABSTRACT Hyperemesis Gravidarum (HG) is a debilitating condition characterized by severe nausea and vomiting during pregnancy, yet its severity is often misunderstood or underestimated by both the public and healthcare providers. This lack of understanding can lead to misdiagnosis, inadequate treatment, and undue suffering for individuals experiencing HG. This study explores the online discourse surrounding HG to identify key themes related to patient experiences and perceptions. Using the Twint0 application, we collected 5,856 relevant posts from the X social networking site over a 12-month period. A thematic analysis revealed four major themes: (1) misconceptions about severity of symptoms, (2) emotional and psychological toll of HG, (3) experiences with healthcare and treatment, and (4) impact on pregnancy and maternal health. The findings highlight the urgent need for greater awareness and understanding of HG, particularly within healthcare settings, to improve diagnosis and treatment. Additionally, the study emphasizes the importance of patient-centered care and mental health support to address the emotional challenges faced by women with HG.

Multi-ancestry GWAS of severe pregnancy nausea and vomiting identifies risk loci associated with appetite, insulin signaling, and brain plasticity.

While most pregnancies are affected by nausea and vomiting, hyperemesis gravidarum (HG) is at the severe end of the clinical spectrum and is associated with dehydration, undernutrition, and adverse maternal, fetal, and child outcomes. Herein we performed a multi-ancestry genome-wide association study (GWAS) of severe nausea and vomiting of pregnancy of 10,974 cases and 461,461 controls across European, Asian, African, and Latino ancestries. We identified ten significantly associated loci, of which six were novel ( SLITRK1 , SYN3 , IGSF11 , FSHB , TCF7L2 , and CDH9), and confirmed previous genome-wide significant associations with risk genes GDF15 , IGFBP7 , PGR , and GFRAL . In a spatiotemporal analysis of placental development, GDF15 and TCF7L2 were expressed primarily in extra villous trophoblast, and using a weighted linear model of maternal, paternal, and fetal effects, we confirmed opposing effects for GDF15 between maternal and fetal genotype. Conversely, IGFBP7 and PGR were primarily expressed in developing maternal spiral arteries during placentation, with effects limited to the maternal genome. Risk loci were found to be under significant evolutionary selection, with the strongest effects on nausea and vomiting mid-pregnancy. Selected loci were associated with abnormal pregnancy weight gain, pregnancy duration, birth weight, head circumference, and pre-eclampsia. Potential roles for candidate genes in appetite, insulin signaling, and brain plasticity provide new pathways to explore etiological mechanisms and novel therapeutic avenues.

Proper counseling for diagnosis and management of cannabinoid hyperemesis syndrome: a case report.

Cannabinoid hyperemesis syndrome (CHS) is an increasingly recognized condition linked to chronic cannabis use, yet it remains frequently overlooked in clinical practice. The syndrome is characterized by cyclic episodes of severe nausea, vomiting, and abdominal pain, often relieved temporarily by hot showers or baths. With the rising prevalence of cannabis use following its legalization, the incidence of CHS has surged, presenting a significant challenge in both diagnosis and management within primary healthcare settings. Understanding the epidemiology, risk factors, and potential long-term sequelae of CHS is crucial for timely identification and intervention. This case report highlights the challenge of diagnosis and management of CHS in primary healthcare. To emphasize the importance of proper counseling and the use of Rome IV criteria in diagnosing CHS. To illustrate how this may reduce patient suffering and unnecessary investigation. A 22-year-old female with chronic, daily cannabis use presented with recurrent episodes of intense nausea, vomiting, and abdominal pain over a 2-year period. Extensive diagnostic evaluations were inconclusive. A tentative diagnosis of CHS was made by a medical student and family doctor based on published criteria. The Rome IV criteria were then applied for confirmation of diagnosis and management. In so doing, the patient was advised to cease cannabis use for a minimum of 3 months. Initially, symptom improvement was reported with cannabis cessation. However, symptoms recurred following a relapse in cannabis use. To confirm the diagnosis of CHS, counseling should specify the need for a minimum of 3 months of cannabis cessation to achieve symptom relief. Increased physician and patient awareness of this minimal time period for drug cessation can help to avoid unnecessary investigations, and prolonged patient suffering. This case emphasizes the need for vigilance in recognizing CHS and consideration of cannabis as a potential cause of cyclic vomiting.

Treatment principles in adults and development of patient‐reported outcomes in cyclic vomiting syndrome

AbstractBackgroundCyclic vomiting syndrome is a chronic disorder of gut‐brain interaction that is present in both adults and children. It is characterized by severe nausea, vomiting, abdominal pain, and several non‐GI symptoms. It is also associated with several comorbid conditions such as anxiety and depression, which affect overall health care outcomes.MethodsThis article delineates treatment principles, encompassing both abortive interventions and prophylactic regimens currently recommended for CVS. However, it underscores a critical concern: the absence of FDA‐approved medications for CVS treatment, with existing therapies relying on retrospective and open‐labeled trials.Key resultsThis article emphasizes the pressing need for the development of CVS‐specific outcome assessment tools to facilitate more accurate evaluation and robust data collection for the future studies. In exploring this deficiency, the manuscript also presents the up‐to‐date data and development that enhances our comprehension of patient‐centric concepts, and the challenges faced in creating CVS‐specific tools, and presents a roadmap for their development. Addressing this gap is crucial for advancing our understanding of CVS and optimizing patient care.Conclusions and InferencesThis elucidates the current state of CVS management but also advocates for a future where tailored tools enhance our ability to measure and improve the outcomes for individuals with this debilitating disorder.

NCOG-08. A RARE PRIMARY CNS T-CELL LYMPHOMA CASE: 12-YEAR FOLLOW-UP AFTER CHEMOTHERAPY

Abstract INTRODUCTION Primary central nervous system (CNS) T-cell lymphoma (PCNSTL) is a rare hematological malignancy. There is mere literature to guide the treatment. CASE REPORT This study is an update on our previously reported case at SNO in 2012 after a 12-year follow-up, detailing the long-term outcome of our chemotherapy treatment for a case of PCNSTL. In 2011, a 26-year-old immunocompetent patient presented with severe headache, vomiting, and lethargy. The brain MRI found more than a dozen masses on his bilateral cerebral hemispheres. Brain biopsy discovered T-cell lymphoma. The patient was started biweekly high-dose-methotrexate (HD-MTX) in 2011. After three doses, there was no noticeable improvement on his brain MRI. His treatment was switched to HD-MTX plus high dose cytarabine regimen (Ferreri et al, The Lancet, 2009). The patient could not tolerate cytarabine; thus, was changed back to HD-MTX. The patient responded to the rest of HD-MTX well. He completed 8 doses of biweekly HD-MTX induction therapy and 2 doses of monthly HD-MTX maintenance therapy. His brain MRI showed complete resolution of enhancement on one-year follow-up image. The patient has been off-treatment and monitored under surveillance of brain MRIs since 2012. He has had no lymphoma recurrence over the past 12 years. His physical functions have been preserved with a Karnofsky Performance Status scale of 80%. Neuropsychological evaluations in 2015, 2018, and 2023 showed mild cognitive impairment with gradual improvements in his working memory and semantic fluency. His Mini-Mental Status Exam scores have remained stable to mild improvement, recording 27/30 in 2015, 26/30 in 2018, 27/30 in 2023 and 28/30 in 2024. DISCUSSION The patient, who is now 38 years old, has surpassed a 12-year survival mark. Our experience emphasizes the feasibility of treating PCNSTL through chemotherapy only, which might be potentially beneficial in surviving and preserving major aspects of brain function.

A Complex Case of Infective Endocarditis With Systemic Complications

A 25-year-old female, with a known case of small perimembranous VSD who was started on empirical anti-tubercular drugs for suspected bilateral tubercular sacroiliitis for the last 1 month presented with persistent fever and increasing shortness of breath. Transthoracic echocardiography revealed concurrent infective endocarditis (IE) affecting the aortic and mitral valves, with small perimembranous ventricular septal defect (VSD), and severe aortic and mitral regurgitation. Repeated blood cultures did not show any growth. Empirical management with intravenous ceftriaxone and gentamicin was initiated. After completing 2 weeks of IV Gentamicin, the patient developed severe headache, vomiting, and transient loss of consciousness. MRI Head confirmed subarachnoid hemorrhage. Emergency External ventricular drain placement ameliorated intracranial pressure-related symptoms. Digital subtraction angiography identified a mycotic aneurysm at left MCA bifurcation as a complication of IE, which was successfully managed through endovascular coiling. Repeat MRI showed subsiding SAH with areas of ischemia, most probably related to cerebral vasospasm. Her blood cultures were still negative, hence shifted to Inj Vancomycin. After a few days, the patient developed a fever with a fall in GCS. Lumbar puncture confirmed bacterial meningitis, subsequently treated with intravenous meropenem. Cardiac CT was done which revealed a small perimembranous VSD along with a small ruptured Sinus of Valsalva draining in the right ventricle. After successful treatment of SAH and meningitis, the patient underwent dual valve replacement (aortic and mitral), VSD closure, and Ruptured sinus of Valsalva repair. Postoperative recovery was uneventful, and the patient was discharged on the fifth postoperative day.

Digital phenotyping of depression during pregnancy using self-report data.

Depression is a common pregnancy complication yet is often under-detected and, subsequently, undertreated. Data collected through mobile health tools may be used to support the identification of depression symptoms in pregnancy. An observational cohort study of 2062 pregnancies collected self-reports of patient history, mood, pregnancy-specific symptoms, and written language using a prenatal support app. These app inputs were used to model depression risk in subsequent 30- and 60-day periods throughout pregnancy. A selective inference lasso modeling approach examined the individual and additive value of each type of patient-reported app input. Depression models ranged in predictive power (AUC value of 0.64-0.83), depending on the type of inputs. The most predictive model included personal history, daily mood, and acute pregnancy-related symptoms (e.g., severe vomiting, cramping). Across models, daily mood was the strongest indicator of depression symptoms in the following month. Models that retained natural language inputs typically improved predictive accuracy and offered insight into the lived context associated with experiencing depression. Our findings are not generalizable beyond a digitally literate patient population that is self-motivated to report data during pregnancy. Simple patient reported data, including sparse language, shared directly via digital tools may support earlier depression symptom identification and a more nuanced understanding of depression context.

First documented case of Smith-Lemli-Opitz syndrome in Syria: clinical presentation, diagnosis, and experimental management with simvastatin

Abstract Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder that affects cholesterol synthesis and causes various physical and mental abnormalities. The case is a 25-day-old male infant who presented with multiple congenital anomalies, such as microcephaly, facial dysmorphism, syndactyly, hypospadias, and other organ malformations. He also had severe vomiting, feeding difficulty, irritability, dehydration, and hyponatremia. Laboratory tests showed low serum cholesterol, in addition to genetic tests, confirming the diagnosis of SLOS. The infant was treated with simvastatin, which improved his irritability and was well tolerated. The paper discusses the clinical features, diagnosis, and management of SLOS, and highlights the importance of early recognition and intervention for this rare case. It is also considered the first documented case in Syria.

Contesting Cannabinoid Hyperemesis Syndrome: How Narratives of Cannabis Shape Diagnosis Contestation and Treatment Resistance.

Cannabinoid hyperemesis syndrome (CHS) is characterized by the onset of cyclic bouts of severe nausea and vomiting in chronic cannabis users. As the number of CHS diagnoses rises, it is important to understand how people experience the disease. Using a narrative framework, we explore how the symbolic meaning participants associated with cannabis shaped the way they experienced diagnosis and treatment of CHS. To do this, we relied on semi-structured interviews with 24 people who self-reported having CHS. Participants had very positive perceptions of cannabis, which contributed to them contesting the diagnosis and resisting the treatment. They initially contested the diagnosis because they believed that cannabis was beneficial and helped with nausea, that claims about the harms of cannabis were part of a larger medical conspiracy to stigmatize it, and that they had different symptoms than those with CHS. They resisted treatment recommendations of abstinence and sought to continue using cannabis by trying new routes of administration, using only certain types of cannabis, reducing the amount or frequency of use, or substituting other substances. Findings point to the importance of understanding how narratives can shape the way people respond to diagnosis and treatment.