scholarly journals GNRH1 Variants in Congenital Hypogonadotropic Hypogonadism: Single-center experience and Systematic Literature Review

2021 ◽  
Author(s):  
Virendra A. Patil ◽  
Anurag Ranjan Lila ◽  
Nalini Shah ◽  
Alka V. Ekbote ◽  
Ravikumar Shah ◽  
...  
Keyword(s):  
Literature Review ◽  
World Literature ◽  
Medical Center ◽  
Hypogonadotropic Hypogonadism ◽  
Academic Medical Center ◽  
Missense Mutations ◽  
Single Center Experience ◽  
The World ◽  
Pubmed Search ◽  
Reproductive Phenotype

Objective: As GNRH1 genotype-phenotype correlation in CHH is not well-studied, we aim to describe the GNRH1 variants in our CHH cohort and present a systematic review as well as genotype-phenotype analysis of all mutation-positive cases reported in the world literature. Design: Retrospective study of GNRH1 mutation-positive patients from a western-Indian center. PRISMA guidelines-based PubMed search of published literature of all GNRH1 mutation-positive patients Setting: Academic medical center. Patient(s): Two probands from our cohort and 19 probands from the world literature. Intervention(s): None Main Outcome Measure(s): Demographic details, clinical presentation, biochemistry, imaging, treatment details, and genotypic data were recorded. Result(s): Two probands in our cohort carried two novel pathogenic biallelic GnRH variants (p.Glu24Leu, c.238-2A>G). Both had a severe reproductive phenotype. We report successful gonadotropin therapy and fertility in one proband. We included 19 probands from 12 studies after the literature review. Ten CHH probands (inclusive two from this study) with biallelic GNRH1 variants had severe reproductive phenotype, low gonadotropins levels, low/normal prolactin, normal pituitary imaging, and no extra-reproductive phenotype. Of seven biallelic variants reported, three were frameshift, two were splice-site and two were missense mutations. All of them were pathogenic/likely pathogenic without oligogenicity. Of seven monoallelic GNRH1 variants reported in eleven probands, four had non-reproductive phenotype, three were Benign/Likely Benign, four were oligogenic. Conclusion(s): GNRH1 biallelic variants lead to severe reproductive phenotype, with low gonadotropin levels without non-reproductive features or oligogenicity. However, the role of GNRH1 monoallelic variants in CHH pathophysiology for reported variants remains questionable.

scholarly journals Management and Surveillance of Frontal Sinus Violation following Craniotomy

2019 ◽  
Vol 81 (01) ◽  
pp. 001-007 ◽  
Author(s):  
Alexander Farag ◽  
Marc R. Rosen ◽  
Natalie Ziegler ◽  
Ryan A. Rimmer ◽  
James J. Evans ◽  
...  
Keyword(s):  
Literature Review ◽  
Frontal Sinus ◽  
Medical Center ◽  
Academic Medical Center ◽  
Case Series ◽  
Endoscopic Endonasal Approach ◽  
Endonasal Approach ◽  
Endoscopic Endonasal ◽  
Incomplete Removal ◽  
Intraoperative Management

Objectives In the setting of craniotomy, complications after traversing the frontal sinus can lead to mucocele formation and frontal sinusitis. We review the etiology of frontal sinus violation, timeline to mucocele development, intraoperative management of the violated sinus, and treatment of frontal mucoceles. Design Case series in conjunction with a literature review. Participants A total of 35 patients were included in this meta-analysis. Nine of these patients were treated at a tertiary academic medical center between 2005 and 2014. The remaining patients were identified through a literature review for which 2,763 articles were identified, of which 4 articles met inclusion criteria. Main Outcomes Measures Etiology of frontal violation, timeline to mucocele development, and method of management. Results The overall interval from initial frontal sinus violation until mucocele identification was 14.5 years, with a range of 3 months to 36 years. The most common cause of mucocele formation was obstruction of the frontal recess with incomplete removal of the frontal sinus mucosa. The majority of patients were successfully managed with an endoscopic endonasal approach. Conclusions Violation of the frontal sinus during craniotomy can result in mucocele formation as an early or late sequela. Image guidance may help avoid unnecessary frontal sinus violation. Mucoceles may develop decades after the initial frontal sinus violation, and long-term follow-up with imaging is recommended. While the endoscopic endonasal approach is usually the preferred method to treat these lesions, it may be necessary to perform obliteration or cranialization in unique situations.

scholarly journals Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History

2019 ◽  
Vol 104 (8) ◽  
pp. 3403-3414 ◽  
Author(s):  
Andrew A Dwyer ◽  
Niraj R Chavan ◽  
Hilana Lewkowitz-Shpuntoff ◽  
Lacey Plummer ◽  
Frances J Hayes ◽  
...  
Keyword(s):  
Weight Loss ◽  
Natural History ◽  
Medical Center ◽  
Semen Analysis ◽  
Hypogonadotropic Hypogonadism ◽  
Academic Medical Center ◽  
Early Puberty ◽  
Hypothalamic Amenorrhea ◽  
Excessive Exercise ◽  
Neuroendocrine Mechanisms

Abstract Context After completion of puberty a subset of men experience functional hypogonadotropic hypogonadism (FHH) secondary to excessive exercise or weight loss. This phenomenon is akin to hypothalamic amenorrhea (HA) in women, yet little is known about FHH in men. Objective To investigate the neuroendocrine mechanisms, genetics, and natural history underlying FHH. Design Retrospective study in an academic medical center. Participants Healthy postpubertal men presenting with symptoms of hypogonadism in the setting of excessive exercise (>10 hours/week) or weight loss (>10% of body weight). Healthy age-matched men served as controls. Interventions Clinical assessment, biochemical and neuroendocrine profiling, body composition, semen analysis, and genetic evaluation of genes known to cause isolated GnRH deficiency. Main Outcome Measures Reproductive hormone levels, endogenous GnRH-induced LH pulse patterns, and rare genetic variants. Results Ten men with FHH were compared with 18 age-matched controls. Patients had significantly lower body mass index, testosterone, LH, and mean LH pulse amplitudes yet normal LH pulse frequency, serum FSH, and sperm counts. Some patients exhibited nocturnal, sleep-entrained LH pulses characteristic of early puberty, and one FHH subject showed a completely apulsatile LH secretion. After decreased exercise and weight gain, five men with men had normalized serum testosterone levels, and symptoms resolved. Rare missense variants in NSMF (n = 1) and CHD7 (n = 1) were identified in two men with FHH. Conclusions FHH is a rare, reversible form of male GnRH deficiency. LH pulse patterns in male FHH are similar to those observed in women with HA. This study expands the spectrum of GnRH deficiency disorders in men.

Anterior cervical osteophytes resulting in severe dysphagia and aspiration: two case reports and literature review

2009 ◽  
Vol 123 (10) ◽  
pp. 1169-1173 ◽  
Author(s):  
M P Kos ◽  
B J van Royen ◽  
E F David ◽  
H F Mahieu
Keyword(s):  
Surgical Treatment ◽  
Literature Review ◽  
World Literature ◽  
Case Reports ◽  
Diffuse Idiopathic Skeletal Hyperostosis ◽  
The Elderly ◽  
Severe Dysphagia ◽  
Cervical Osteophytes ◽  
The World ◽  
Progressive Dysphagia

AbstractObjective:We report two cases in which dysphagia and aspiration, caused by anterior cervical osteophytes, were so severe that surgical resection was performed.Method:Case reports and a review of the world literature concerning dysphagia caused by anterior cervical osteophytes, in regard to pathogenesis, diagnosis and treatment.Results:Two patients, aged 71 and 70 years, had long-standing, slowly progressive dysphagia and aspiration; one patient had recurrent episodes of aspiration pneumonia as a result. Both patients were diagnosed on videofluoroscopy with large bony anterior cervical osteophytes. Immediate relief of symptoms was obtained after resection of the osteophytes via an anterolateral, extrapharyngeal approach. Anterior cervical osteophytes are relatively common in the elderly, although not frequently diagnosed, and are mostly seen in cases of diffuse idiopathic skeletal hyperostosis. If therapy is indicated it is mainly conservative; resection is rarely needed.Conclusion:In patients with anterior cervical osteophytes, surgical treatment is indicated only for selected cases with large, bony osteophytes and severe symptoms.

scholarly journals History Off-Hand: Bunnell’s No-Man’s Land

Hand ◽  
2017 ◽  
Vol 14 (4) ◽  
pp. 570-574 ◽  
Author(s):  
J. Joris Hage
Keyword(s):  
World War I ◽  
Health Services ◽  
San Francisco ◽  
Medical Center ◽  
Hand Surgery ◽  
Round Robin ◽  
World War ◽  
The World ◽  
Pubmed Search ◽  
No Man's Land

Background: To date, it remains unclear what inspired Dr Sterling Bunnell to start using the typical World War I military term no-man’s land in hand surgical context, only in 1948. To commemorate that Bunnell passed away 60 years ago on August 20, I report on my quest to clarify this. Methods: An extensive bibliography of Bunnell was made up by use of the McDowell Series of Plastic Surgery Indexes and cross-checked by use of a PubMed search. Bunnell’s round-robin letters were searched for in the Sterling Bunnell Hand Surgery Archives of the California Pacific Medical Center Health Services Library in San Francisco, California. In addition, some of the second-generation hand surgeons were personally approached to try and trace the round-robin letters. Finally, the publications of the chiefs of the 9 hand surgical centers and 6 coworkers of Bunnell were checked for referrals to the term no-man’s land. Results: Prior to 1948, no-man’s land was not used in print in hand surgical context. Bunnell’s nearness to the trenches during World War I appears not to have inspired him immediately to start using the term. The reconnaissance tunnels dug through the soil of the no man’s land between the Allied and German trenches likely inspired him to replace a cut tendon through incisions proximal and distal to no-man’s land. Conclusions: Bunnell must have associated his tendon grafting techniques to that of the World War I trenches and tunnels at some time between 1947 and 1948.

scholarly journals A Location-Based Outcome Analysis of the Most Common Microsurgically Clipped Cerebral Aneurysms: A Single-Center Experience

2021 ◽  
Vol 2 (1) ◽  
Author(s):  
Peyton L Nisson ◽  
Ali Tayebi Meybodi ◽  
Garrett K Berger ◽  
Austen Thompson ◽  
Ramin A Morshed ◽  
...  
Keyword(s):  
Medical Center ◽  
Academic Medical Center ◽  
Cerebral Aneurysms ◽  
Neurological Status ◽  
Senior Author ◽  
Ruptured Aneurysm ◽  
Outcome Analysis ◽  
Anterior Communicating Artery ◽  
Single Center Experience ◽  
Microsurgical Clipping

ABSTRACT BACKGROUND Intracranial aneurysms of the anterior communicating artery (AComA), posterior communicating artery (PComA), and the middle cerebral artery (MCA) comprise the majority of all aneurysms encountered and treated by vascular neurosurgeons. OBJECTIVE To analyze and compare outcomes between these locations using multivariable logistic regression and to assess what clinical features may differ between them. METHODS Solitary aneurysms microsurgically clipped by the senior author were included from a prospective database of patients treated between January 2010 and April 2013 at a tertiary academic medical center. Neurological status was assessed using the modified Rankin Scale (mRS). Neurological outcomes were dichotomized, with mRS scores 0-2 considered “good” and 3-6 considered “poor.” RESULTS A total of 196 patients were treated; 69 aneurysms were located at the MCA, 77 at the AComA, and 50 at the PComA. A total of 48% (97/196) of patients presented with a ruptured aneurysm and 14% (25/180) were considered large. PComA was more commonly presented as a ruptured aneurysm (64%) compared to AComA (56%) and MCA (28%) (P ≤ .001), and when ruptured, PComA aneurysms were 1.6 times more likely to experience a favorable outcome compared to MCA aneurysms (P = .01). Regression analysis revealed PComA was associated with a lower risk for poor outcomes (odds ratio [OR] 0.19, P = .01) controlling for age, presentation type, and vasospasm. CONCLUSION Patients who underwent microsurgical clipping of ruptured PComA aneurysms experienced significantly better outcomes, while those with MCA aneurysms suffered the worst. Further investigation on this topic and the potential reasons that may account for these differences is warranted.

scholarly journals Management of Nephrolithiasis in Pregnancy: Multi-Disciplinary Guidelines From an Academic Medical Center

2021 ◽  
Vol 8 ◽  
Author(s):  
Matthew S. Lee ◽  
Michael A. Fenstermaker ◽  
Emily E. Naoum ◽  
Suzanne Chong ◽  
Cosmas J. Van de Ven ◽  
...  
Keyword(s):  
Care Pathway ◽  
Medical Center ◽  
Evidence Synthesis ◽  
Academic Medical Center ◽  
Ease Of Use ◽  
Diagnostic Study ◽  
Team Members ◽  
Diagnostic Uncertainty ◽  
Academic Medical ◽  
Pubmed Search

Introduction: The management of nephrolithiasis during pregnancy can be stressful for urologists due to concerns for investigations and treatments that may pose risk of fetal harm, and unfamiliarity with optimal management of these complex patients. In response, we created multi-disciplinary evidence-based guidelines to standardize the care for obstetric patients presenting with flank pain and suspicion for nephrolithiasis.Methods: A multi-disciplinary team involving Urology, Obstetric Anesthesiology, Obstetrics and Gynecology, Diagnostic Radiology, and Interventional Radiology from a single academic medical center was assembled. A PubMed search was performed using keywords of pregnancy/antepartum, nephrolithiasis/calculi/kidney stones, ureteroscopy, non-obstetric surgery, complications, preterm delivery, MRI, computerized tomography, renal bladder ultrasound (RBUS), and anesthesia to identify relevant articles. Team members reviewed their respective areas to create a comprehensive set of guidelines. One invited external expert reviewed the guidelines for validation purposes.Results: A total of 54 articles were reviewed for evidence synthesis. Four guideline statements were constructed to guide diagnosis and imaging, and seven statements to guide intervention. Guidelines were then used to create a diagnostic and intervention flowchart for ease of use. In summary, RBUS should be the initial diagnostic study. If diagnostic uncertainty still exists, a non-contrast CT scan should be obtained. For obstetric patients presenting with a septic obstructing stone, urgent decompression should be achieved. We recommend ureteral stent placement as the preferred intervention if local factors allow.Conclusions: We present a standardized care pathway for the management of nephrolithiasis during pregnancy. Our aim is to standardize and simplify the clinical management of these complex scenarios for urologists.

scholarly journals COVID-19 Treatment Experiences in the ICU

2020 ◽  
pp. 33-38
Author(s):  
George Mychaskiw II ◽  
Harish Siddaiah ◽  
Shilpadevi S. Patil
Keyword(s):  
Intensive Care ◽  
Intensive Care Units ◽  
Medical Center ◽  
Academic Medical Center ◽  
Disease Process ◽  
Global Crisis ◽  
Disease Symptoms ◽  
Academic Medical ◽  
The World ◽  
The U.S

The COVID-19 pandemic has been a global crisis at an unprecedented level. More than 4.75 million cases and 157,000 deaths have been reported in the U.S. as of August 3, 2020. The whole disease process, from symptoms and diagnosis to medications and treatment, has been a challenge, as COVID-19 is a novel disease that the world has never before encountered. In this article, the authors discuss the disease symptoms, pathophysiology and treatments based on their experience treating COVID-19 positive patients in the intensive care units of a major Louisiana academic medical center.

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