Natural History of SURF1 Deficiency: A Retrospective Chart Review.

BACKGROUND: This retrospective chart review evaluated the clinical characteristics of SURF1-related neurological disease spectrum to better characterize the phenotypes. METHODS: Patient demographics, magnetic resonance imaging abnormalities, neurological events, motor abnormalities, and gastrointestinal and respiratory assistance were evaluated in 27 patients with genetically diagnosed SURF1 deficiency. RESULTS: The mean (S.D.) age of symptom onset collected from 13 patients was 19.7 (11.8) months. Mean (S.D.) age of diagnosis collected from 24 patients was 44.0 (45.1) months. The most common symptoms were gross motor delay (14 of 14), fine motor delay (10 of 11), verbal delay (9 of 10), and intellectual and learning disability (14 of 19). Neurological symptoms included ataxia (14 of 15), other abnormal movements (8 of 9), hypotonia (9 of 11), and dystonia (6 of 9). Three of nine reporting patients (33.3%) had a history of seizure, and 84.6% (11 of 13) had a history of regression/loss of acquired skills. Extraneurological clinical features included pulmonary complications (10 of 11) and feeding difficulties (13 of 13); cardiac complications were noted in three patients. Brainstem is frequently involved with the medulla and midbrain being the most common sites. As of July 2021, three patients were deceased. CONCLUSIONS: The most common clinical symptoms were motor delay, verbal delay, intellectual and learning disability, dysphagia, feeding difficulties, and reflux. Neurological presentations include ataxia, hypotonia, visual/ocular abnormalities, dystonia, and imaging abnormalities include basal ganglia and brainstem lesions. Although heterogeneous, SURF1 deficiency should be considered with these clinical and imaging presentations and may support earlier identification.

A massive malignant pleural effusion due to lung adenocarcinoma in an adult male: a case report.

A significant right-sided pleural effusion was seen on chest radiography in a 53-year-old adult male who complained of bilateral chest pain, shortness of breath, and other additional symptoms. The bloody pleural effusion was removed with a chest tube, and cytopathology analysis showed moderate cellularity. After performing a high-resolution computed tomography, it was discovered that the affected lung had a significant pleural effusion on the right side as well as collapsed and consolidated lung parenchyma. Upon further examination, the right lower lobe wedge biopsy cytology smear revealed mucinous adenocarcinoma. Adults rarely experience a severe malignant pleural effusion brought on by lung adenocarcinoma, particularly in the absence of risk factors.

A Comprehensive Review of the Management of Acute Respiratory Distress Syndrome.

Acute respiratory distress syndrome (ARDS) is an inflammatory process in the lungs that induces non-hydrostatic protein-rich pulmonary edema. ARDS occurs in roughly half of coronavirus disease 2019 (COVID-19) pneumonia patients, with most of them requiring intensive care. Oxygen saturation, partial pressure of the oxygen, and the fraction of the inspired oxygen are health indicators that may indicate a severe illness necessitating further investigation. As treatments have evolved, a typical pattern of ARDS has likewise evolved. In cases where mechanical ventilation is required, the use of low tidal volumes (<6 ml/kg ideal body weight) and airway pressures (plateau pressure <30 cmH2O) was recommended. For patients with moderate/severe ARDS (partial pressure to fractional inspired oxygen ratio <20), prone positioning was recommended for at least 16 hours per day. By contrast, high-frequency oscillation was not recommended. The use of inhaled vasodilators was recommended in patients with persistent hypoxemia despite invasive ventilation and prone position until extracorporeal membrane oxygenation (ECMO). The use of a conservative fluid management strategy was suggested for all patients. Mechanical ventilation with high positive end-expiratory pressure (PEEP) was suggested for patients with ARDS with a ratio of arterial oxygen partial pressure to fractional inspired oxygen (PF) ratios. ECMO was suggested as an adjunct to protective mechanical ventilation for patients with severe ARDS. In the absence of adequate evidence, research recommendations were made for corticosteroids and extracorporeal carbon dioxide removal. While decades of research have been conducted, treatment options for underlying pathologies remain limited, and mechanical ventilation, which removes carbon dioxide from the body, remains essential to achieving better clinical outcomes. This review aims to identify the best ARDS treatments that are currently available.

Removal of an atypical ovarian dermoid cyst: a case report.

Ovarian dermoid cysts, also known as mature teratomas, are benign embryonal tumors with a slow growth rate. They are the consequence of ectodermal components becoming trapped along with their closure sites and account for the most common germinative ovarian tumor in reproductive-aged women. These patients may have a reduced risk of morbidity if they receive an accurate diagnosis and extensive follow-up care. These cysts are often evaluated using one of the following imaging techniques: computed tomography, magnetic resonance imaging, pelvic ultrasonography, or transvaginal ultrasound. Laparoscopy and laparotomy are the 2 surgical procedures typically used to remove persistent or exceptionally large cysts. Leakage of cyst contents during surgery is a common postoperative complication that can seldom, but occasionally, results in chemical peritonitis. We discuss a case of a significant dermoid cyst that developed in an older woman and was successfully removed via laparoscopic surgery. This instance is instructive for other physicians who may encounter a similar pathology.

An Infected Simple Renal Cyst at Each Pole of the Left Kidney and Its Management: A Case Report.

A simple renal cyst can become infected spontaneously due to various modes like direct cyst penetration during biopsy or surgical exploration, hematogenous spread of infection, and retrograde infection from the urinary tract. Managing such cases becomes challenging due to the risk of rupture of the cyst, causing sequelae of bacteremia and septic shock. Aspiration of cyst along with imaging modality can strengthen the diagnosis. However, nephrectomy coupled with antibacterial administration is an updated therapeutic intervention for an infected simple renal cyst. Our patient presented with a renal cyst at each pole of the left kidney complicated by infection, and after confirming the diagnosis on computed tomography, we performed a right-sided nephrectomy after proper informed consent. The patient responded well to treatment and improved her quality of life.

HIV Dementia: A Bibliometric Analysis and Brief Review of the Top 100 Cited Articles.

Dementia is a syndrome of cognitive impairment that affects an individual's ability to live independently. The number of people living with dementia worldwide in 2015 was estimated at 47.47 million. The American Academy of Neurology (AAN) criteria for human immunodeficiency virus (HIV)-associated dementia (HAD) require an acquired abnormality in at least two cognitive (non-motor) domains and either an abnormality in motor function or specified neuropsychiatric/psychosocial domains. HIV is the most common cause of dementia below 60 years of age. Citation frequencies are commonly used to assess the scholarly impact of any scientific publication in bibliometric analyses. It helps depict areas of higher interest in terms of research frequency and trends of citations in the published literature and identify under-explored domains of any field, providing useful insight and guidance for future research avenues. We used the database "Web of Science" (WOS) to search for the top 100 cited articles on HIV-associated dementia. The keywords "HIV dementia" and "HIV-associated neurocognitive disorders" (HAND) were used. The list was generated by two authors after excluding articles not pertaining to HIV dementia. The articles were then assigned to authors to extract data to make tables and graphical representations. Finally, the manuscript was organized and written describing the findings of the bibliometric study. These 100 most cited articles on HIV dementia were published between years 1986 and 2016. The highest number of the articles was from 1999 (n=9). The year 1993-2007 contributed consistently two publications to the list. The articles are from 42 journals, and among them, the Annals of Neurology (n=16) and the Journal of Neurology (n=15) published most of the articles. Justin C. McArthur with 25 publications contributed the highest number of papers to the list by any author. The USA collaborated in the highest number of publications (n=87). American institutes were leading the list with the most publications. The Johns Hopkins University collaborated on 37 papers. The most widely studied aspect of HIV dementia was pathogenesis. Incidence and prevalence, clinical features, and pre- and post-highly active antiretroviral therapy (HAART) era were also discussed in the articles. Beyond America, the research should be expanded to low-income countries and those affected more by HIV. Therefore, other countries and their institutes should participate more in HIV-associated dementia research. Anticipating the rising resistance to existing antiretrovirals, we should develop new therapeutic options. There is room for research in many aspects of HIV dementia care.

A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management.

BACKGROUND: Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizures and hyperventilation. Breath-holding spells with choreathetoid movements have been previously described. CASE PRESENTATION: We describe an 11-year old boy who has daily intractable seizures reported since birth, developmental delay, autistic features and feeding difficulties. He was eventually found to have de novo, heterozygous pathogenic variant (c.1612G > T, p.E538*) in the ASXL3 gene. He has frequent episodes of breath-holding accompanied by dystonic posturing with right leg extension and head turning without ictal EEG correlate. The breath-holding spells have been refractory to several medication trials including iron supplementation, acetazolamide, and desipramine. CONCLUSIONS: This case represents a more severe phenotype of Bainbridge-Ropers Syndrome than previously described with refractory breath-holding spells with dystonia, intractable epilepsy, and progressive cerebral/cerebellar atrophy. Breath-holding spells cause significant morbidity, are poorly understood, and have very limited treatment options.

Recognizing sinonasal cancer in primary care: a matched case-control study using electronic records.

BACKGROUND: Cancers of the nasopharynx, nasal cavity, and accessory sinuses ("sinonasal") are rare in England, with around 750 patients diagnosed annually. There are no specific National Institute for Health and Care Excellence (NICE) referral guidelines for these cancers and no primary care research published. OBJECTIVE: To identify and quantify clinical features of sinonasal cancer in UK primary care patients. METHODS: This matched case-control study used UK Clinical Practice Research Datalink (CPRD) data. Patients were aged ≥40 years with a diagnosis of sinonasal cancer between January 1, 2000 and December 31, 2009 and had consulted their GP in the year before diagnosis. Clinical features of sinonasal cancer were analysed using conditional logistic regression. Positive predictive values (PPVs) for single and combined features were calculated. RESULTS: In total, 155 cases and 697 controls were studied. Nine symptoms and one abnormal investigation were significantly associated with the cancer: nasal mass; odds ratio, 95 (95% confidence interval 7.0, 1315, P = 0.001); head and neck lumps, 68 (12, 387, P < 0.001); epistaxis, 17 (3.9, 70, P < 0.001); rhinorrhoea, 14 (4.6, 44, P < 0.001); visual disturbance, 12 (2.2, 67, P = 0.004); sinusitis, 7.3 (2.2, 25, P = 0.001); sore throat, 6.0 (2.0, 18, P = 0.001); otalgia, 5.4 (1.6, 18, P = 0.007); headache, 3.6 (1.4, 9.5, P = 0.01); raised white cell count, 8.5 (2.8, 27, P < 0.001). Combined PPVs for epistaxis/rhinorrhoea, epistaxis/sinusitis, and rhinorrhoea/sinusitis were 0.62%. CONCLUSION: This is the first primary care study identifying epistaxis, sinusitis, and rhinorrhoea as part of the clinical prodrome of sinonasal cancer. Although no PPVs meet the 3% NICE referral threshold, these results may help clinicians identify who warrants safety-netting and possible specialist referral, potentially reducing the number of advanced-stage diagnoses of sinonasal cancer.

Sinonasal cancer occurs in the back of the nose or in the sinuses. It is rare in the United Kingdom, with most cases being diagnosed at an advanced stage. Delayed presentation and non-specific symptoms often lead to diagnosis at a later stage, with consequently poorer survival outcomes. Currently, there is no research describing the symptoms presented by these patients to their general practitioner (GP), nor referral guidelines for primary healthcare professionals. The aim of this study was to detect the symptoms of patients aged ≥40 years, diagnosed with sinonasal cancer in primary care. Three symptoms in the year before their diagnosis were linked with sinonasal cancer: nosebleeds, runny nose, and sinusitis. These symptoms may help GPs to identify possible sinonasal cancer patients earlier, though each symptom was low-risk on its own.

A Rare Case of Renal Cell Carcinoma With Inferior Vena Cava Invasion: A Life-Threatening Complication.

Renal cell carcinoma (RCC) arises from the renal tubular epithelial cells and comprises a group of heterogenous renal tumors. Renal tumors can metastasize to involve almost any body organ, the common sites being the lung, liver, bone, brain, adrenal gland, head, neck, and rarely, inferior vena cava (IVC), leading to lethal outcomes. We present a case of RCC with IVC invasion in a patient who presented with right-sided flank pain and gross hematuria. His routine biochemical and hematological parameters were unremarkable, and an abdominal examination revealed a complex renal mass with mild hydronephrosis. The patient underwent contrast-enhanced magnetic resonance angiography with venography, which showed a right renal upper polar mass lesion extending into the right vein obliterating it up to its junction with the IVC. Integrating examination and imaging findings were suggestive of right renal RCC. Our case highlights the importance of standard preoperative MRI imaging to assess IVC invasion and its morphologic features including vessel breach or complete occlusion of the IVC.

Spontaneous Coronary Artery Dissection in Patients With Fibromuscular Dysplasia.

Clinicians must be mindful of angiographic appearances in patients with spontaneous coronary artery dissection (SCAD) in the setting of fibromuscular dysplasia (FMD) for the timely management of these high-risk patients. The objective is to highlight the clinical diagnostic and treatment modalities in rare case presentations of patients presenting with concurrent SCAD and FMD presentation. A qualitative review of scholarly materials. Twenty-seven patients who presented with a combination of SCAD and FMD from January 1, 2009, to August 2019 were identified. Various demographics such as age, gender, FMD location, acute-phase treatment (i.e., percutaneous coronary intervention (PCI) vs. coronary artery bypass grafting (CABG) vs. conservative), treatment outcomes, and then grouped into two tables. The mean age >46 years and standard deviation (SD) were used to calculate the normal distribution and percentile used to calculate others for treatment. SCAD and FMD cases were collected from three search engines ranging between 2009 and 2019. 22% of the patients had coronary artery disease (CAD). Additionally, 44.4% representing 12 patients with ST-segment elevation acute myocardial infarction (STEMI), four patients 14.8% presented with a non-ST-segment elevation myocardial infarction (NSTEMI), and nine patients 33.33% offered with unstable angina. Besides, 13 patients were diagnosed with optical coherence tomography (OCT), while intravascular ultrasound (IVUS) diagnosed six patients. SCAD is still very rare compared to other causes of myocardial infarction. Data has shown that up to 25% of acute coronary syndrome (ACS) cases of women between 40 and 65 years are SCAD.

Autologous hematopoietic stem cell transplantation in a pediatric patient with aquaporin-4 neuromyelitis optica spectrum disorder.

We report on a child with an early and severe manifestation of an Aquaporin-4 (AQP-4) positive Neuromyelitis Optica Spectrum Disorder (NMOSD) who had a refractory disease course despite aggressive immunotherapy and underwent autologous hematopoietic stem cell transplant (AHSCT).

Aquaporin-4 neuromyelitis optica spectrum disorder in a 2-year-old girl: Diagnostic and treatment considerations.

We describe a case of an unusually early and severe manifestation of Aquaporin-4 (AQP-4) positive Neuromyelitis Optica Spectrum Disorder (NMOSD) in a two-year-old girl. We discuss learning points from her clinical presentation and highlight differences between pediatric and adult presentations of the disease. We argue that AQP-4 NMOSD should always be considered in the differential diagnosis for any child presenting with an acute neuroimmunological process given the morbidity associated with the condition and the importance of early diagnosis and treatment.

Ascaris Lumbricoides Infestation as an Unexpected Cause of Acute Pancreatitis.

Ascariasis is the most common helminthic infection. It is most common in children of tropical and developing countries where the transmission is by contamination of soil by human feces or use of untreated feces as fertilizer. Transmission in most endemic areas is via person to person contact. We hereby present a case report of acute pancreatitis due to ascariasis. Twenty-five-year-old male patient presented to us with chief complaint of acute epigastric pain radiating to back and associated with vomiting. Initial lab investigations revealed increased serum amylase and lipase. Probable diagnosis of acute pancreatitis was made. CT scan was done and report revealed bulky pancreas, and significant peri-pancreatic fat stranding. He was managed symptomatically with intravenous fluids, analgesics, anti-emetics and enteral nutrition. However, the cause remained undetermined as we ruled out the possible etiologies of acute pancreatitis until one day the patient vomited a 15-cm round worm. Thereafter, his condition improved dramatically. This is one of the first few case reports of ascariasis-induced pancreatitis from Pakistan and the first one from Baluchistan province of Pakistan. Thus it highlights ascariasis as possible etiology of acute pancreatitis in regions where ascariasis is geographically endemic.

Ego defense mechanisms in Pakistani medical students: a cross sectional analysis.

BACKGROUND: Ego defense mechanisms (or factors), defined by Freud as unconscious resources used by the ego to reduce conflict between the id and superego, are a reflection of how an individual deals with conflict and stress. This study assesses the prevalence of various ego defense mechanisms employed by medical students of Karachi, which is a group with higher stress levels than the general population. METHODS: A questionnaire based cross-sectional study was conducted on 682 students from five major medical colleges of Karachi over 4 weeks in November 2006. Ego defense mechanisms were assessed using the Defense Style Questionnaire (DSQ-40) individually and as grouped under Mature, Immature, and Neurotic factors. RESULTS: Lower mean scores of Immature defense mechanisms (4.78) were identified than those for Neurotic (5.62) and Mature (5.60) mechanisms among medical students of Karachi. Immature mechanisms were more commonly employed by males whereas females employed more Neurotic mechanisms than males. Neurotic and Immature defenses were significantly more prevalent in first and second year students. Mature mechanisms were significantly higher in students enrolled in Government colleges than Private institutions (p < 0.05). CONCLUSIONS: Immature defense mechanisms were less commonly employed than Neurotic and Mature mechanisms among medical students of Karachi. The greater employment of Neurotic defenses may reflect greater stress levels than the general population. Employment of these mechanisms was associated with female gender, enrollment in a private medical college, and students enrolled in the first 2 years of medical school.

Long-term facilitation of breathing is absent after episodes of hypercapnic hypoxia in awake humans.

Despite the failure by many previous investigators to demonstrate a long-term facilitation of breathing following episodes of hypoxia in awake humans, we attempted to produce it using a pattern of hypercapnic hypoxic episodes similar to that experienced by obstructive sleep apnoea patients, reasoning that if long-term facilitation was relevant to these patients then it is appropriate to test the effectiveness of such episodes. Ten subjects drawn from the University student population were instrumented to measure ventilation, heart rate and end-tidal PCO2 and PO2 breath-by-breath while seated in a comfortable reclining chair. After an initial resting period breathing room air they experienced fifteen, 30-s episodes breathing 6% O2 and 5% CO2 separated by 90 s of breathing air. We examined the measured variables for an hour after the episodes but found no trends toward an increase in ventilation or decrease in end-tidal PCO2 that would indicate the presence of a long-term facilitation. We therefore concluded that long-term facilitation of ventilation was not demonstrated in awake humans using this pattern of stimuli.