An experience with 124 cases of fanconi anemia: clinical spectrum, hematological parameters and chromosomal breakage analysis

xlomafota13 shared this article with you from Inoreader An experience with 124 cases of fanconi anemia: clinical spectrum, hematological parameters and chromosomal breakage analysis Via American Journal of Blood Research Am J Blood Res. 2021 Oct 15;11(5):498-503. eCollection 2021. ABSTRACT BACKGROUND: Fanconi anemia is an inherited bone marrow failure syndrome characterized by somatic abnormalities and an increased predisposition to malignancies. OBJECTIVE: To determine the clinical spectrum and evaluate the hematological parameters as well as highlight diagnosis by chromosomal breakage analysis of Fanconi anemia patients. MATERIAL AND METHODS: A total of 124 patients were diagnosed as having Fanconi anemia from August 2014 to May 2020 at Armed Forces Institute of Pathology, Rawalpindi, Pakistan. Clinical details, somatic abnormalities, radiological findings, lab parameters and result of chromosomal breakage analysis were noted and analyzed. RESULTS: One hundred and twenty four (14.29%) were diagnosed as having Fanconi anemia (FA) on chromosomal breakage test. Median age was 09 years 06 months. Male to female ratio was 1.9:1. Six of t hese patients exhibited mosaicism and were classified as FA mosaic. Somatic abnormalities were detected in 74 (59.7%) patients; the most common being skeletal abnormalities and short stature. CONCLUSION: Chromosomal breakage analysis is a cost-effective method for diagnosis of Fanconi anemia. Early diagnosis is pertinent for proper treatment and long term prognosis. PMID:34824882 | PMC:PMC8610795 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Impact of G-CSF administration post-allogeneic hematopoietic stem-cell transplantation on outcomes: a systematic review and meta-analysis

xlomafota13 shared this article with you from Inoreader Impact of G-CSF administration post-allogeneic hematopoietic stem-cell transplantation on outcomes: a systematic review and meta-analysis Via American Journal of Blood Research Am J Blood Res. 2021 Oct 15;11(5):544-563. eCollection 2021. ABSTRACT Granulocyte colony-stimulating factors (G-CSFs) have been used post hematopoietic stem cell transplant (HSCT) for earlier neutrophil engraftment. The use of G-CSFs, and their effect on other post-HSCT outcomes remains debatable. In this systematic review and meta-analysis, we searched PubMed, Embase, Cochrane library, Google Scholar, and IndMed using a predefined search strategy. We included randomized controlled trials (RCTs) and non-randomized studies (NRSs) reporting data on G-CSF administration post-HSCT, published in the English language from their inception until Jan 31, 2021. The primary outcome of this systematic review and meta-analysis was to evaluate the time to neutrophil engraftment (NE). The secondary outcomes were probability of NE, time to platelet engraftment (PE), the incidence of graft-versus-host disease (GVHD), duration of hospital stay (HS), and overall survival (OS). The review is registered with PROSPERO (CRD42020206989). Fourteen studies were extracted (n=9850), of which five were RCTs, and nine were NRSs. As per Egger's test, publication bias was not present for any outcome. After meta-analysis, we found that the duration of NE favouring G-CSF arm from RCTs was -0.94 days (SMD) [(95% CI: -1.38, -0.51); I2=35%], and from NRSs -1.2 days (SMD) [(95% CI: -1.43, -0.96); I2=74%]. For the outcome of GVHD, the relative risks (RR) of incidence for chronic GVHD and overall GVHD were not significant for the RCTs, and these were 1.11 (RR) [(95% CI: 1.00, 1.22); I2=43%] and 1.10 (RR) [(95% CI: 1.03, 1.18); I2=48%], respectively for NRSs. There was no difference in the incidence of GVHD (acute or chronic) in both arms. No significant difference was found between the two arms for the outcomes of PE, HS, and OS. For NE, there was a marginal benefit of around one day with the use of G-CSF. Th e use of G-CSF did not alter time to PE, the incidence of GVHD, HS, and OS in both arms. PMID:34824887 | PMC:PMC8610798 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

The Insula: A Stimulating Island of the Brain

xlomafota13 shared this article with you from Inoreader The Insula: A Stimulating Island of the Brain Via cortical auditory Brain Sci. 2021 Nov 19;11(11):1533. doi: 10.3390/brainsci11111533. ABSTRACT Direct cortical stimulation (DCS) in epilepsy surgery patients has a long history of functional brain mapping and seizure triggering. Here, we review its findings when applied to the insula in order to map the insular functions, evaluate its local and distant connections, and trigger seizures. Clinical responses to insular DCS are frequent and diverse, showing a partial segregation with spatial overlap, including a posterior somatosensory, auditory, and vestibular part, a central olfactory-gustatory region, and an anterior visceral and cognitive-emotional portion. The study of cortico-cortical evoked potentials (CCEPs) has shown that the anterior (resp. posterior) insula has a higher connectivity rate with itself than with the posterior (resp. anterior) insula, and that both the anterior and posterior insula are closely connected, notably between the homologous insula r subdivisions. All insular gyri show extensive and complex ipsilateral and contralateral extra-insular connections, more anteriorly for the anterior insula and more posteriorly for the posterior insula. As a rule, CCEPs propagate first and with a higher probability around the insular DCS site, then to the homologous region, and later to more distal regions with fast cortico-cortical axonal conduction delays. Seizures elicited by insular DCS have rarely been specifically studied, but their rate does not seem to differ from those of other DCS studies. They are mainly provoked from the insular seizure onset zone but can also be triggered by stimulating intra- and extra-insular early propagation zones. Overall, in line with the neuroimaging studies, insular DCS studies converge on the view that the insula is a multimodal functional hub with a fast propagation of information, whose organization helps understand where insular seizures start and how they propagate. PMID:34827532 | DOI:10.3390/brainsci11111533 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Paraneoplastic acute vestibular syndrome: What, when and how

xlomafota13 shared this article with you from Inoreader Paraneoplastic acute vestibular syndrome: What, when and how Via Acta Otorrinolaringologica English Publication date: November–December 2021 Source: Acta Otorrinolaringologica (English Edition), Volume 72, Issue 6 Author(s): Carolina Moreno-de-Jesús, Lucía Prieto-Sánchez-de-Puerta, Irene Mármol-Szombathy, Emilio Domínguez-Durán View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Rare anastomosis between a replaced right hepatic artery and left branch of the proper hepatic artery

xlomafota13 shared this article with you from Inoreader Rare anastomosis between a replaced right hepatic artery and left branch of the proper hepatic artery Via radiol anat Surg Radiol Anat. 2021 Nov 27. doi: 10.1007/s00276-021-02863-x. Online ahead of print. ABSTRACT Appreciation of the potential anatomical variation of the hepatic arterial supply and branches of the abdominal aorta is of paramount importance in pancreatic and hepatobiliary surgery. Here we describe a hitherto un-reported coelio-mesenteric anastomotic connection between a replaced right hepatic artery, originating from the superior mesenteric artery, and the left hepatic branc h of the proper hepatic artery. The embryological origins of the variant anatomy as well as its potential surgical implications are discussed with a view to encourage thorough pre-operative interrogation of available imaging by radiologists and surgeons to successfully identify such variants and take advantage of their potentially useful functionality. PMID:34837499 | DOI:10.1007/s00276-021-02863-x View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Double‐Barrel Versus Single‐Barrel Fibula Flaps for Mandibular Reconstruction: Safety and Outcomes

xlomafota13 shared this article with you from Inoreader Double‐Barrel Versus Single‐Barrel Fibula Flaps for Mandibular Reconstruction: Safety and Outcomes Via The Laryngoscope Objectives/Hypothesis Fibula flaps are routinely used for osseous reconstruction of head and neck defects. However, single-barrel fibula flaps may result in a height discrepancy between native mandible and grafted bone, limiting outcomes from both an aesthetic and dental standpoint. The double-barrel fibula flap aims to resolve this. We present our institution's outcomes comparing both flap designs. Study Design Retrospective cohort study. Methods We conducted a retrospective review of all patients undergoing free fibula flap mandibular reconstruction at our institution between October 2008 and October 2020. Patients were grouped based on whether they underwent single-barrel or double-barrel reconstruction. Postoperative outcomes data were collected and compared between groups. Differences in categorical and continuous variables were assessed using a Chi-square test or Student's t-test, respectively. Results Out of 168 patients, 126 underwent single-barrel and 42 underwent double-barrel reconstruction. There was no significant difference in postoperative morbidity between approaches, including total complications (P = .37), flap-related complications (P = .62), takeback to the operating room (P = .75), flap salvage (P = .66), flap failure (P = .45), and mortality (P = .19). In addition, there was no significant difference in operative time (P = .86) or duration of hospital stay (P = .17). After adjusting for confounders, primary dental implantation was significantly higher in the double-barrel group (odds ratio, 3.02; 95% confidence interval, 1.2–7.6; P = .019). Conclusion Double-barrel fibula flap mandibular reconstruction can be performed safely without increased postoperative morbidity or duration of hospital stay relative to single-barrel reconstruction. Moreover, the double-barrel approach is associated with higher odds of primary dental implantation and may warrant further consideration as part of an expanded toolkit for achieving early dental rehabilitation. Level of Evidence III Laryngoscope, 2021 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Diagnostic Accuracy Outcomes of Office‐Based (Outpatient) Biopsies in patients with Laryngopharyngeal Lesions: A Systematic Review

xlomafota13 shared this article with you from Inoreader Diagnostic Accuracy Outcomes of Office‐Based (Outpatient) Biopsies in patients with Laryngopharyngeal Lesions: A Systematic Review Via Clinical Otolaryngology Abstract Introduction In-office biopsy (IOB) using local anaesthetic for laryngopharyngeal tumours has become an increasingly popular approach since the advent of distal chip endoscopes. Although a wide range of studies advocate use in clinical practice, the widespread application of the procedure is hampered by concerns regarding diagnostic accuracy. Methods A systematic review following the PRISMA guidelines was conducted to assess the diagnostic accuracy of IOBs performed via flexible endoscopy. In addition, an analysis of potentially modifiable factors that may affect diagnostic accuracy was performed. PubMed, EMBASE, The Cochrane Library, Web of Science, CINAHL were used in the literature database search. Results 875 studies were identified, 16 of which were included into the systematic review. 1572 successful biopsies were performed using flexible endoscopy. 1283 cases were accurately diagnosed in the outpatient setting (81.6%). 289 samples did not provide an accurate diagnosis (18.4%). The median sensitivity of IOBs was 73%, the specificity was 96.7%. Analysis of variable factors did not show any significant differences in method of approach, size of equipment (forceps), additional lighting system or learning curve. Conclusion IOBs are a viable tool for diagnostic workup of laryngopharyngeal tumours. Clinicians should be wary of reported limitations of IOBs when benign or pre-malignant diagnoses are made. In cases suspicious of malignancy, confirmatory investigation should be conducted. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Tongue Edema Secondary to Suspension Laryngoscopy

xlomafota13 shared this article with you from Inoreader Reply to Tongue Edema Secondary to Suspension Laryngoscopy Via Journal of Voice In our article titled "Tongue Edema Secondary to Suspension Laryngoscopy," we presented two patients who underwent prolonged suspension micro laryngoscopy (SML) and developed edema of the tongue that was severe enough that intensive care unit admission with airway monitoring was required.1 At the time of its acceptance for publication in the Journal of Voice on September 23, 2019, the complication of tongue edema following SML had not been reported. We were surprised that this problem had not been described in the literature. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Cochlear nerve continuity preservation during retrosigmoid ablative osteotomy of the internal auditory canal for advanced vestibular schwannomas

xlomafota13 shared this article with you from Inoreader Cochlear nerve continuity preservation during retrosigmoid ablative osteotomy of the internal auditory canal for advanced vestibular schwannomas Via hno HNO. 2021 Nov 23. doi: 10.1007/s00106-021-01116-y. Online ahead of print. ABSTRACT The data of 86 patients with retrosigmoid microsurgical resection of vestibular schwannoma in tumor stage Koos II-IV were evaluated. In more than two thirds of the cases it was shown that the cochlear nerve followed the facial nerve, which is easily identified by electroneurography, in recurrent similar patterns in the region of the internal auditory canal. Starting from the fundus, this facil itated early identification and thus preservation of continuity of the cochlear nerve in the course of the internal auditory canal. This was of particular importance when safe functional preservation could not be guaranteed due to tumor size or formation despite intraoperative derivation of somatosenoric potentials, but when the possibility of subsequent hearing rehabilitation with a cochlear implant should be granted. Preoperative MRI sequences gave an indication of the possible nerve courses in some cases, but intraoperative imaging in the internal auditory canal was superior to MRI. PMID:34812915 | DOI:10.1007/s00 106-021-01116-y View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Middle Transclival Endoscopic Endonasal Resection of a Ventral Pontine Cavernous Malformation

xlomafota13 shared this article with you from Inoreader Middle Transclival Endoscopic Endonasal Resection of a Ventral Pontine Cavernous Malformation Via leak of cerebrospinal fluid World Neurosurg. 2021 Nov 3;158:34-35. doi: 10.1016/j.wneu.2021.10.142. Online ahead of print. ABSTRACT The surgical management of lesions within or around the brainstem is usually associated with significant morbidity. Even though several safe entry zones have been described for brainstem lesions, especially cavernous malformations (CMs), their resection remains a challenge due to the convergence of highly functional nerve tracts and nuclei in this rather small structure. Moreover, the ventral location of some of these lesions usually calls for complex surgical approaches involving extensive bone drilling and significant manipulation of neurovascular structures. The expanded endoscopic endonasal approach has been subject to considerable advancements, widening the range of lesions accessible through this route. In this operative video, we describe the surgical nuances of an endoscopic endonasal transclival resection of a ventral pontine CM (F igures 1 and 2). A pedicled nasoseptal flap was harvested for reconstruction, gaining access to the sphenoid rostrum, which was resected. The sellar floor was removed to expose the middle third of the clivus, which was drilled out until posterior fossa dura mater was identified. A centered dural incision was performed to expose the ventral pons and basilar artery. Using image guidance, a limited pial incision over the most superficial aspect of the lesion allowed a prompt drainage of the hematoma and resection of the CM. The surgical cavity was directly inspected through the endoscope, confirming a complete resection. Reconstruction was carried out in a multilayered fashion. The patient presented a postoperative cerebrospinal fluid leak, which resolved with a lumbar drain. Neurologic status remained unchanged after surgery, with the patient displaying a favorable clinical outcome (Video 1). PMID:34740828 | DOI:10.1016/j.wneu.2021.10.142 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Surgical Intervention to Treat Pharyngolaryngeal Stenosis Caused by Behcet's Disease

xlomafota13 shared this article with you from Inoreader Surgical Intervention to Treat Pharyngolaryngeal Stenosis Caused by Behcet's Disease Via ear nose throat Ear Nose Throat J. 2021 Nov 24:1455613211053427. doi: 10.1177/01455613211053427. Online ahead of print. ABSTRACT We aimed to summarize the surgical treatment for pharyngolaryngeal stenosis and discuss prognosis in patients with Behcet's disease. Six cases of pharyngolaryngeal stenosis caused by Behcet's disease were analyzed retrospectively. All underwent surgical treatment for pharyngolaryngeal stenosis after systematic medical treatment. The follow-up time for the 6 patien ts was between 1 and 12 years. Four of the 6 patients underwent adhesiolysis as their first procedure. Two of these 4 experienced recurrence of stenosis within 6 months and underwent flap repair as their second procedure. The remaining two patients underwent flap reconstruction as their first procedure and maintained good swallowing function. Three of the 6 patients underwent preoperative tracheotomy because of dyspnea. Tracheal decannulation was successful in all patients. None of the patients experienced recurrence after their final surgical procedure and all recovered to a near-normal condition. Pharyngolaryngeal stenosis caused by Behcet's disease is a rare but severe complication; surgical intervention should be considered in patients with dysphagia after systematic medical treatment. PMID:34814770 | DOI:10.1177/01455613211053427 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.