Transcobalamin deficiency - a rare genetic defect in transportation of cobalamin; case report.

BACKGROUND: Vitamin B12 is primarily transported from plasma to cells by Transcobalamin. Deficiency of Transcobalamin is a rare autosomal recessive disorder that results in unavailability of cobalamin in cells and accumulation of homocysteine and methylmalonic acid. CASE REPORT: We report a case of a 2-year-old male child with persistent pancytopenia, recurrent infections, and megaloblastic anemia. Next-generation sequencing identified a novel variant in exon 8 of TCN2 gene. Substantial improvement has been observed following administration of high doses of parenteral methylcobalamin. CONCLUSION: In patients with unresolved pancytopenia and megaloblastic anemia, Transcobalamin deficiency should be investigated and treated promptly to prevent any irreversible and harmful outcome.

Post Discharge Six-Month Functional Recovery of Traumatic Brain Injury Survivors with Unfavorable Functional Status at Discharge: A Registry-Based Cohort Study.

BACKGROUND: Traumatic Brain Injury (TBI) is a major cause of physical disabilities worldwide. Herein, we aimed to investigate the factors contributing to post-discharge recovery in patients who were discharged with an unfavorable outcome. METHODS: We collected data on the characteristics of patients, with a focus on those who survived TBI but had an unfavorable outcome at discharge as measured by Glasgow Outcome Scale Extended; GOSE categories two, three, and four. Post-discharge recovery was defined as achieving a favorable functional status at six months (GOSE of five or more) with a minimum two-point increase in GOSE. RESULTS: Of 4011 TBI patients in our registry, 797 had an unfavorable discharge functional status. In severe TBI, 51% achieved recovery, while in mild to moderate TBI, 57% achieved recovery after six months. Older patients and those with shorter intensive care unit length of stay were more likely to experience post-discharge recovery in both mild to moderate and severe TBI groups. The presence of base of skull fracture was also associated with post-discharge recovery in severe TBI patients. Lastly, we showed that, after adjustment for potential confounders, GOSE at discharge is associated with post-discharge recovery in both mild to moderate and severe TBI patients. CONCLUSION: This study found that the majority of the patients who were discharged with an unfavorable functional status were able to achieve a favorable outcome within six months. The novel post-discharge recovery in TBI patients might be a useful toll for illuminating the factors associated with a significant improvement after discharge.

Penile Carcinoma Secondary to Balanitis Xerotica Obliterans and Its Compounding Resultant Pathologies: A Case Report.

A 57-year-old African-American male presented with urinary retention secondary to a history of balanitis xerotica obliterans (BXO) concurrent with penile carcinoma. BXO, characterized by chronic, sclerosing inflammation of the male external genitalia, presents significant clinical challenges due to its progressive nature and potential for complications. The patient experienced recurrent episodes of urinary retention, leading to multiple hospital visits and disease progression, prompting a comprehensive evaluation and intervention. The patient's medical history revealed a complex array of comorbidities, including penile carcinoma secondary to BXO, urethral strictures, and meatal stenosis. Clinical assessment, including bedside bladder ultrasound and laboratory investigations, confirmed urinary retention secondary to urethral stricture, necessitating urological consultation. Management strategies involved Foley catheter placement, urethral dilation, and pharmacological interventions for pain management. Subsequent follow-up and imaging evaluations identified an increased risk of carcinoma development, highlighting the importance of surveillance and early intervention in patients with BXO. This case report highlights the intricate clinical manifestations and therapeutic considerations encountered in managing BXO and its associated pathologies.

Early hypocoagulable state in traumatic brain injury patients: incidence, predisposing factors, and outcomes in a retrospective cohort study.

Coagulopathy development in traumatic brain injury (TBI) is among the significant complications that can negatively affect the clinical course and outcome of TBI patients. Timely identification of this complication is of utmost importance in the acute clinical setting. We reviewed TBI patients admitted to our trauma center from 2015 to 2021. Demographic data, mechanism of injury, findings on admission, imaging studies, procedures during hospitalization, and functional outcomes were gathered. INR with a cutoff of 1.3, platelet count less than 100 × 109/L, or partial thromboplastin time greater than 40s were utilized as the markers of coagulopathy. A total of 4002 patients were included. Coagulopathy occurred in 38.1% of the patients. Age of the patients (Odds Ratio (OR) = 0.993, 95% Confidence Interval (CI) = 0.986-0.999, p = 0.028), systolic blood pressure (OR = 0.993, 95% CI = 0.989-0.998, p = 0.005), fibrinogen level (OR = 0.998, 95% CI = 0.996-0.999, p < 0.001), and hemoglobin level (OR = 0.886, 95% CI = 0.839-0.936, p < 0.001) were independently associated with coagulopathy. Furthermore, coagulopathy was independently associated with higher mortality rates and longer ICU stays. Coagulopathy had the most substantial effect on mortality of TBI patients (OR = 2.6, 95% CI = 2.1-3.3, p < 0.001), compared to other admission clinical characteristics independently associated with mortality such as fixed pupillary light reflex (OR = 1.8, 95% CI = 1.5-2.4, p < 0.001), GCS (OR = 0.91, 95% CI = 0.88-0.94, p < 0.001), and hemoglobin level (OR = 0.93, 95% CI = 0.88-0.98, p = 0.004). Early coagulopathy in TBI patients can lead to higher mortality rates. Future studies are needed to prove that early detection and correction of coagulopathy and modifiable risk factors may help improve outcomes of TBI patients.

Exploring the perceptions and experiences of female's with ß-thalassemia major in a Tertiary Care Private Hospital in Pakistan.

INTRODUCTION: ß-Thalassemia, a genetic condition which influences both the physical and emotional facets of individuals specially females while also exerting substantial financial strain on families and healthcare systems. Recognizing the pivotal influence of social support, particularly on mental well-being, this study endeavors to delve into the shared psychosocial challenges experienced by females grappling with ß-thalassemia major. METHODS: Employing a qualitative-descriptive methodology and purposive sampling, this study conducted in-depth interviews with forty-two young girls, 18.64 ± 4.27, diagnosed with ß-thalassemia major and representing diverse academic backgrounds, using a semi-structured in-depth interview guide. NVIVO-12 software facilitated extended data analysis, encompassing coding, categorization, theme development, and mind-mapping techniques to unravel nuanced insights from the collected data. FINDINGS: This groundbreaking study delves into the psychosocial factors that impact the well-being of female ß-thalassemia patients. The research highlights the key factors that positively contribute to their quality of life by conducting thorough inductive content analysis. These include receiving an education, having robust family support, experiencing overall life satisfaction, and making meaningful societal contributions. The findings of this study can be used to improve the lives of female ß-thalassemia patients and enhance their overall well-being. Contrariwise, notable impediments encompassed depression, social isolation, limited access to insurance services, challenges in educational and employment spheres, as well as difficulties in nurturing social relationships. These findings underscore the multifaceted influences shaping the quality of life for girls navigating ß-thalassemia, shedding light on empowering and challenging elements within their experiences. CONCLUSION: In conclusion, psychosocial factors supporting or hindering the well-being of young girls with ß-thalassemia major in Pakistan include an inductive environment at homes, organizations, education, institutions with adequate knowledge of thalassemia disease among patients, and society. More research is needed to understand their needs and advocate for societal support and acceptance. Family and friends support are crucial for improving their quality of life, necessitating focused efforts to provide understanding and aid within the community.

A Novel Skin Incision for Posterior Fossa Midline and Paramedian Lesions: A Technical Note and Case Series.

Approaching posterior fossa pathologies is fairly challenging. Poor exposure, cerebrospinal fluid (CSF) leak following surgery, post-operative suboccipital and neck pain, as well as wound healing are all common complications following traditional suboccipital midline incision. Herein, we present a novel incision for approaching posterior fossa pathologies. The incision is shaped like a question mark and makes a musculofascial flap supplied by the occipital artery on top as well as a wide area for craniotomy. In our technique, the dura is also incised in a question mark-shaped manner. The new incision was used to operate on three patients who had masses in the posterior fossa. Following surgeries, none of the patients experienced any adverse events such as CSF leak, wound complications, severe suboccipital pain, and neck instability. This new incision not only facilitates approaching pathologies in the posterior fossa by providing wider exposure but also enables us to perform watertight dural closure, which reduces CSF leak. Furthermore, as the muscular incision provides a sufficient area for craniotomy, muscular retraction can be minimized to reduce post-operative pain. Moreover, unlike the midline avascular incision, the flap is well supplied by the occipital artery, which facilitates the healing procedure.

Untreated Graves' Disease Complicated by Thyroid Storm and High-Output Cardiac Failure: A Case Report.

Thyroid storm is a rare yet critical complication of uncontrolled thyrotoxicosis, posing significant challenges in clinical management. We present the case of a 65-year-old African-American female with a medical history significant for untreated Graves' disease, hypertension, and diverticulosis, who presented with escalating abdominal pain, accompanied by nausea, vomiting, diarrhea, and chest discomfort. Upon admission, she exhibited atrial fibrillation with rapid ventricular response (RVR) and newly diagnosed high-output cardiac failure. Diagnosis of thyroid storm was confirmed through comprehensive laboratory assessments and clinical evaluation. Treatment with beta-blockers, anti-thyroid medications, and corticosteroids facilitated stabilization of her condition. This case report highlights the importance of early identification and intervention in thyroid storm to avert potential morbidity and mortality.

Biological invasions are a population-level rather than a species-level phenomenon.

Biological invasions pose a rapidly expanding threat to the persistence, functioning and service provisioning of ecosystems globally, and to socio-economic interests. The stages of successful invasions are driven by the same mechanism that underlies adaptive changes across species in general-via natural selection on intraspecific variation in traits that influence survival and reproductive performance (i.e., fitness). Surprisingly, however, the rapid progress in the field of invasion science has resulted in a predominance of species-level approaches (such as deny lists), often irrespective of natural selection theory, local adaptation and other population-level processes that govern successful invasions. To address these issues, we analyse non-native species dynamics at the population level by employing a database of European freshwater macroinvertebrate time series, to investigate spreading speed, abundance dynamics and impact assessments among populations. Our findings reveal substantial variability in spreading speed and abundance trends within and between macroinvertebrate species across biogeographic regions, indicating that levels of invasiveness and impact differ markedly. Discrepancies and inconsistencies among species-level risk screenings and real population-level data were also identified, highlighting the inherent challenges in accurately assessing population-level effects through species-level assessments. In recognition of the importance of population-level assessments, we urge a shift in invasive species management frameworks, which should account for the dynamics of different populations and their environmental context. Adopting an adaptive, region-specific and population-focused approach is imperative, considering the diverse ecological contexts and varying degrees of susceptibility. Such an approach could improve and refine risk assessments while promoting mechanistic understandings of risks and impacts, thereby enabling the development of more effective conservation and management strategies.

Orthopedic Challenges in Avascular Necrosis Management: A Case Report of Surgical Complications and Multidisciplinary Care.

A 52-year-old woman, with a multifaceted medical background encompassing spinal cord injury, pneumonia, and recurrent hospitalizations, presents with enduring left hip and leg discomfort ultimately diagnosed as avascular necrosis (AVN). She previously underwent intraosseous direct anterior arthroplasty (DAA) of the left hip during the removal of orthopedic artifacts. Despite enduring hypertension, severe trochanter dislocation, and prosthesis fracture, she recovered and required additional surgery to address the dislocation and fracture. This case underscores the challenges in diagnosing and treating AVN, emphasizing the importance of meticulous postoperative care and a multidisciplinary approach. Challenges highlighted by AVN include delayed diagnosis, intricate surgical procedures, and the potential need for further interventions due to hardware complications and infection as seen in this patient.

Emergency Hysterectomy Following Placental Abruption in a Patient With a History of Substance Abuse: A Case Report.

Placental abruption is a serious medical condition that can occur during pregnancy, involving the premature separation of the placenta from the inner uterine wall before childbirth. This detachment often leads to severe bleeding, and if conventional methods prove ineffective in managing the bleeding, a hysterectomy may be deemed necessary to ensure the mother's safety. This case report details the management of a 22-year-old female, gravida IV, para III, who experienced placental abruption during her fourth pregnancy. An emergent cesarean section resulted in severe postpartum hemorrhage and disseminated intravascular coagulation (DIC). Positive drug tests for cocaine and methamphetamines added further complexity, leading to an unplanned hysterectomy for life-saving measures. This case underscores the critical importance of early recognition, multidisciplinary collaboration, and timely intervention in managing obstetric emergencies within the context of substance abuse.

Chronic Idiopathic Ulcers Mimicking Cecal Carcinoma: A Case Report.

Chronic idiopathic ulcers of the colon pose diagnostic challenges due to their elusive etiology and potential resemblance to other intestinal pathologies, such as cecal carcinoma. This case report outlines the clinical course of a 68-year-old female patient who presented to the emergency department (ED) with persistent right lower quadrant pain. Despite multiple hospital visits yielding varied diagnoses, a definitive diagnosis was only made following a laparoscopic partial colectomy, which revealed chronic idiopathic ulcers with transmural scarring and adhesions to adjacent small intestine loops. Histological examination demonstrated a substantial ulcer bed populated by inflammatory cells, including large stellate and spindled stromal cells within the granulation tissue, alongside lymphoid hyperplasia and scar tissue extending into the muscularis propria. The initial presentation of this case could easily be mistaken for appendicitis, diverticulitis, carcinoma, or irritable bowel syndrome, highlighting the significance of considering chronic idiopathic ulcers in the differential diagnosis of patients presenting with cecal masses.

Iatrogenic Bladder Injury During Laparoscopic Hysterectomy: A Case Report and Discussion of Anatomic Variations.

Hysterectomy, one of the most common surgical procedures performed in women worldwide, assumes a very important role in the definitive management of diverse gynecologic conditions. This case report presents a compelling instance of an iatrogenic bladder perforation that occurred during laparoscopically assisted vaginal hysterectomy in a 47-year-old woman with a high body mass index, extensive surgical history, and postural orthostatic tachycardia syndrome. Despite considerable preoperative planning and the use of minimally invasive techniques, the occurrence of physician-induced bladder perforation highlights the significance of understanding anatomical relationships and variations. The patient's previous abdominal surgeries including two cesarean sections, appendectomy, and cholecystectomy likely contributed to scar formation and adhesions, making dissection challenging. The case report and following discussion delve into anatomical variations, as well as the diagnosis and management of iatrogenic bladder injuries. The presented case serves as a valuable addition to the literature, contributing insights into the challenges and considerations surrounding urinary tract injuries during hysterectomy. This paper aims to review current research and guide practicing obstetricians and gynecologists in the management of intraoperative bladder injuries.

Elevated skull fractures: an institutional experience and individual participant data meta-analysis.

Elevated skull fracture (ESF) is a rare but potentially life-threatening type of skull fracture. The literature on this topic is relatively sparse. Herein, we conducted a meta-analysis of all the patients reported in the literature with ESFs with respect to their clinical management to better inform practice. On 20th of January 2023, we conducted a systematic search of literature to find all published cases of ESF. We also conducted a retrospective review of ESF cases from our institution. The data collection and analysis were conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. After screening, 28 studies met the inclusion criteria. A total of 104 individual patients were included in the meta-analysis, with a median age of 24 years and 85.7% of whom were males. 11 patients (11.2%) had an unfavorable outcome while 37 (35.2%) had one or more complications. We found that GCS on admission is an independent predictor of poor outcome in ESF (odds ratio (95% confidence interval) = 1.605 (1.110-2.315), p value = 0.012). Regarding complications, dural injury (odds ratio (95% confidence interval) = 66.667 (7.407-500.00), p value < 0.001) and multiple bone involvement (odds ratio (95% confidence interval) = 6.849 (2.127-22.222), p value = 0.001) were independent predictors of complication. ESFs represent a rare yet consequential form of cranial injury, carrying potentially life-threatening implications if not promptly addressed. In this study, we present the meta-analysis of outcomes and complications within this patient cohort, offering a comprehensive synthesis of existing literature on this pathology. However, further investigation is imperative to provide higher-quality evidence and address lingering uncertainties in the classification and management of ESFs.

Ayurvedic Herbal Medicines: A Literature Review of Their Applications in Female Reproductive Health.

Ayurveda, an ancient holistic and personalized healing system originating from the Indian subcontinent, has been gaining increasing attention as a complementary and alternative medical practice for treating various health conditions, including those related to women's reproductive well-being. This comprehensive literature review examines a wide array of experimental and clinical studies exploring the diverse facets of Ayurvedic interventions in addressing issues such as menstrual irregularities, polycystic ovary syndrome (PCOS), infertility, and menopausal symptoms. The paper specifically focuses on discussing the available data regarding the efficacy of Tulsi (Ocimum tenuiflorum), ashwagandha (Withania somnifera), ginger (Zingiber officinale), cardamom (Elettaria cardamomum), turmeric (Curcuma longa), and Shatavari (Asparagus racemosus), which have traditionally been used in Ayurvedic medicine for centuries. The synthesis of literature not only highlights the potential benefits of these Ayurvedic interventions, but also critically assesses the methodological rigor of existing studies, identifying research gaps, and proposing directions for future investigations. While acknowledging the need for further rigorous research and clinical trials, the review emphasizes the benefits of collaborative and integrative healthcare. This review aims to serve as a valuable resource for healthcare practitioners, researchers, and individuals seeking holistic and natural alternatives for female reproductive health management.

Surgical outcomes of myelomeningocele repair: A 20-year experience from a single center in a middle-income country.

BACKGROUND AND PURPOSE: Spina bifida is the second major cause of congenital disorders and the most common central nervous system congenital malformation compatible with life primarily. Herein, we describe the short-term outcome of post-natal Myelomeningocele (MMC) surgical management and predictors of its postoperative complications and mortality. METHODS: This retrospective chart review studies the children who underwent post-natal surgical management for MMC in Namazi hospital, a tertiary referral center, in southern Iran from May 2001 to September 2020. RESULTS: 248 patients were included in this study. The mean age at the operation was 8.47 ± 8.69 days. The most common site of involvement of MMC was Lumbosacral (86%, n = 204). At the evaluation conducted prior to the operation, cerebrospinal fluid leak was observed in 7% (n=16) of the patients. Postoperatively, 5.7% of the patients expired in the 30-day follow-up after the operation (n = 14), while 24% needed readmission (n = 47). The most common complications leading to readmission were wound dehiscence (n = 10, 42%) and wound purulence (n = 6, 25%). Only the site of the lesion (p-value = 0.035) was associated with postoperative complication. After controlling for potential confounders, the site of the lesion (adjusted odds ratio = 0.146, 95% confidence interval = 0.035-0.610, p-value = 0.008) and age at surgery (adjusted odds ratio = 1.048, 95% confidence interval = 1.002-1.096, p-value = 0.041) were significantly associated with mortality CONCLUSIONS: The age of the patients at the surgery and the site of the lesion are the two factors that were associated with mortality. However, further investigations into preoperative interventions and risk factors to mitigate the risk of complications and mortality are highly encouraged.

Intrauterine Growth Restriction and Placenta Previa: A Clinical Case Report of an Advanced-Age Pregnancy.

Exploring the intricacies of managing high-risk pregnancies complicated by intrauterine growth restriction (IUGR), placenta previa, and a single umbilical artery requires a comprehensive understanding of their etiologies, mechanisms, and treatment recommendations. This case report delves into the clinical course of a 34-year-old smoker with a pre-pregnancy body mass index of 14.2 kg/m2, shedding light on the considerations posed by a pregnancy in which several risk factors are superimposed on one another. IUGR, affecting 10%-15% of pregnancies, elevated the risk of adverse outcomes during labor and delivery, necessitating careful antenatal monitoring. Placenta previa, with an incidence of 0.3% to 2% in pregnancies, introduced further complications impacting delivery modes and raising the risk of hemorrhage. This report aims to showcase the interconnectedness between these various obstetrical complications and risk factors, to guide maternal-fetal-medicine specialists in making informed decisions during the management of high-risk pregnancies.

Multidisciplinary Exploration of Unknown Oral Lesions With Accompanying Oral Verrucas of the Tongue: A Case Report.

A 64-year-old African American male with a history of hypertension and type II diabetes mellitus presented with unexplained upper lip lacerations after several frequent episodes of hemoptysis. Following the upper lip lacerations were several weeks of intermittent unknown episodic fevers. The patient, challenged by impaired mobility, exhibited an array of symptoms, including severe upper lip pain with lacerations and white patches on the tongue. Laboratory findings indicated thrombocytopenia and anemia, with positive tests for both influenza A and B. Despite completing Tamiflu, the patient experienced recurrent fevers. Imaging revealed gastrointestinal abnormalities, leading to the initiation of nystatin and a multi-antibiotic regimen without significant fever resolution. A subsequent tongue biopsy revealed verruca lesions, and acyclovir was initiated. Despite this, the patient developed lip and facial blisters. Negative results from cytomegalovirus (CMV) deoxyribonucleic acid (DNA) polymerase chain reaction (PCR) prompted a shift in focus to managing persistent fevers, ultimately controlled with naproxen but without discoverable cause. This case underscores the diagnostic challenge posed by unexplained fevers in an elderly patient with oral manifestations. The protracted course and evolving symptoms emphasize the intricacies of managing such cases, highlighting the need for continued investigation and collaboration across medical disciplines in navigating complex clinical scenarios.

Tumefactive Crohn's Disease Mimicking Colon Carcinoma in a Young Female: A Case Report.

Tumefactive Crohn's disease is a rare form of Crohn's disease that may mimic colon carcinoma macroscopically. This case report describes a 28-year-old female who presented with right-sided abdominal pain and a palpable abdominal mass that had persisted for over a month. Multiple hospitalizations failed to provide an accurate diagnosis until an exploratory laparotomy revealed that the "mass" was the cecum and a perforated ascending colon. A partial right colectomy was performed, sending the specimen for biopsy. The microscopic description showed dense and confluent chronic inflammation in the colonic mucosa and wall, extending to the serosa in some regions. The infiltration comprised lymphocytes and plasma cells, with an admixture of some neutrophils. Aphthous mucosal ulcerations, intramural fissures, and fistulas were present. Immunostains for pan-keratin demonstrated no intramural epithelial elements. The characteristics of this lesion represent tumefactive Crohn's disease. This case highlights the key microscopic characteristics that pathologists look for when differentiating Crohn's disease from colon carcinoma in a patient presenting with abdominal pain and a colon mass.

Development of a Novel Neurological Score Combining GCS and FOUR Scales for Assessment of Neurosurgical Patients with Traumatic Brain Injury: GCS-FOUR Scale.

BACKGROUND: Consciousness assessment is crucial for patients with traumatic brain injury. In this study, we developed a novel scoring system combining the Glasgow coma scale (GCS) and the full outline of unresponsiveness (FOUR) and evaluated its association with the intensive care unit (ICU) length of stay, mortality, and functional outcome. METHODS: We retrospectively analyzed the data from patients with traumatic brain injury admitted to the neurosurgical ICU of our institution during a 2-year period. The eye and motor components of the GCS and the brainstem reflex component of the FOUR were used to compute the GCS-FOUR. We performed statistical analysis to demonstrate the association between the GCS, FOUR, and GCS-FOUR and the ICU length of stay, mortality, the development of a persistent vegetative state, and desirable recovery. RESULTS: A total of 140 patients were included. The mean age was 30.6 years, and 89.3% were male. All 3 scores were associated with the ICU length of stay, mortality, a persistent vegetative state, and good recovery. In terms of predicting mortality, the GCS score exhibited a slight superiority compared with the other indexes, and the GCS-FOUR score showed a slight superiority over the other indexes in predicting for good recovery. CONCLUSIONS: The GCS-FOUR is a novel scoring system comparable to the GCS and FOUR regarding its association with functional status after injury, ICU length of stay, and mortality. The GCS-FOUR score provides greater neurological detail than the GCS due to the inclusion of brainstem reflexes, in addition to using the experience of healthcare providers with the GCS score compared with the FOUR in most settings.

From Fibroids to Fasciitis: A Rare Case of Necrotizing Fasciitis Post-Abdominal Hysterectomy.

Necrotizing fasciitis is a life-threatening bacterial infection characterized by rapid tissue destruction and systemic inflammation. Although it is rare, it can occur at surgical incision sites in procedures such as open abdominal hysterectomy. Prompt diagnosis and treatment are essential to prevent sepsis and multi-organ failure. We present a case of a 39-year-old morbidly obese African American woman with a history of type II diabetes that developed necrotizing fasciitis at a transverse incision site following an abdominal hysterectomy. The infection was complicated by a urinary tract infection caused by Proteus mirabilis. Surgical debridement and antibiotic therapy were successfully employed to treat the infection. This case emphasizes the importance of clinical suspicion, early intervention, and appropriate antimicrobial therapy in managing necrotizing fasciitis at incision sites, particularly in patients with additional risk factors.