RESUMEN
Sperm heads contain not only the nucleus but also the acrosome which is a distinctive cap-like structure located anterior to the nucleus and is derived from the Golgi apparatus. The Golgi Associated RAB2 Interactors (GARINs; also known as FAM71) protein family shows predominant expression in the testis and all possess a RAB2-binding domain which confers binding affinity to RAB2, a small GTPase that is responsible for membrane transport and vesicle trafficking. Our previous study showed that GARIN1A and GARIN1B are important for acrosome biogenesis and that GARIN1B is indispensable for male fertility in mice. Here, we generated KO mice of other Garins, namely Garin2, Garin3, Garin4, Garin5a, and Garin5b (Garin2-5b). Using computer-assisted morphological analysis, we found that the loss of each Garin2-5b resulted in aberrant sperm head morphogenesis. While the fertilities of Garin2-/- and Garin4-/- males are normal, Garin5a-/- and Garin5b-/- males are subfertile, and Garin3-/- males are infertile. Further analysis revealed that Garin3-/- males exhibited abnormal acrosomal morphology, but not as severely as Garin1b-/- males; instead, the amounts of membrane proteins, particularly ADAM family proteins, decreased in Garin3 KO spermatozoa. Moreover, only Garin4 KO mice exhibit vacuoles in the sperm head. These results indicate that GARINs assure correct head morphogenesis and some members of the GARIN family function distinctively in male fertility.
Asunto(s)
Fertilidad , Infertilidad Masculina , Ratones Noqueados , Cabeza del Espermatozoide , Animales , Masculino , Ratones , Acrosoma/metabolismo , Fertilidad/genética , Aparato de Golgi/metabolismo , Infertilidad Masculina/genética , Infertilidad Masculina/metabolismo , Proteínas de la Membrana/metabolismo , Proteínas de la Membrana/genética , Morfogénesis/genética , Proteína de Unión al GTP rab2/metabolismo , Proteína de Unión al GTP rab2/genética , Cabeza del Espermatozoide/metabolismo , Espermatozoides/metabolismo , Testículo/metabolismo , Testículo/crecimiento & desarrolloRESUMEN
Infertility is considered a global health issue as it currently affects one in every six couples, with female factors reckoned to contribute to partly or solely 50% of all infertility cases. Over a thousand genes are predicted to be highly expressed in the female reproductive system and around 150 genes in the ovary. However, some of their functions in fertility remain to be elucidated. In this study, 13 ovary and/or oocyte-enriched genes (Ccdc58, D930020B18Rik, Elobl, Fbxw15, Oas1h, Nlrp2, Pramel34, Pramel47, Pkd1l2, Sting1, Tspan4, Tubal3, Zar1l) were individually knocked out by the CRISPR/Cas9 system. Mating tests showed that these 13 mutant mouse lines were capable of producing offspring. In addition, we observed the histology section of ovaries and performed in vitro fertilization in five mutant mouse lines. We found no significant anomalies in terms of ovarian development and fertilization ability. In this study, 13 different mutant mouse lines generated by CRISPR/Cas9 genome editing technology revealed that these 13 genes are individually not essential for female fertility in mice.
Asunto(s)
Sistemas CRISPR-Cas , Fertilidad , Ovario , Animales , Femenino , Ovario/metabolismo , Fertilidad/genética , Ratones , Sistemas CRISPR-Cas/genética , Oocitos/metabolismo , Masculino , Edición Génica , Ratones Noqueados , Ratones Endogámicos C57BLRESUMEN
Hemifacial spasm is a neurological disorder that causes involuntary contractions of facial muscles on one side of the face. This study aims to analyze the intraoperative pattern of neurovascular compression (NVC) and discuss relevant decompression techniques for 29 patients with hemifacial spasm who underwent endoscopy-assisted microvascular decompression (EAMVD). Patients and Methods: This was a prospective, single center, single neurosurgeon, cross-sectional study conducted from November 2020 to August 2022. All patients received EAMVD, and the NVC culprit vessel, compression site, severity, and type were analyzed using a 30-degree endoscope. Results: All 29 patients had successful interposition EAMVD without postoperative symptoms. The most common NVC site was REX (18 in 29 cases), the most common vessel to compress the seventh nerve was AICA (23 in 29 cases), while the most common type of NVC was loop (22 in 29 cases). NVC severity: 17 cases of mild compression, 4 cases of moderate compression, and 8 cases of severe compression. Without an angled telescope, we will miss the NVC in 12 cases (41.3%). Conclusion: EAMVD using an angled endoscope is a promising technique for treating hemifacial spasm. Intraoperative analysis of NVC can lead to a better understanding of the patterns of compression and may help in selecting appropriate decompression techniques.
RESUMEN
Introduction: and importance: Vertebral-artery associated hemifacial spasm is rare. Microvascular decompression (MVD) of hemifacial spasm (HFS) associated with the vertebral artery (VA) shows high rates of incomplete cure and complications compared to non-VA-related HFS. Case presentation: A 39-year-old male who presented with a 2-year history of progressive left-sided typical HFS. Endoscopic assisted MVD for VA-associated HFS via a retro-sigmoid keyhole was performed. Neurovascular conflicts by both the VA and the AICA around the root exit zone of the facial nerve in sandwich type were successfully decompressed. Clinical discussion: Vertebral-artery associated hemifacial spasm is challenging. With the assistance of endoscopy, multiple neurovascular conflicts were clearly demonstrated without significant cerebellar retraction. The VA and AICA were safely interposed with preservation of perforators under excellent view. Conclusion: Endoscopic assisted MVD offers reliable decompression with minimum invasiveness in case of VA-associated HFS with multiple compressions.
RESUMEN
INTRODUCTION AND IMPORTANCE: Pituitary apoplexy is defined as a sudden onset of neurologic deficit due to infarction or hemorrhage of the pituitary tumor. We report a case of emergency endoscopic surgery for pituitary apoplexy presenting as cerebral infarction due to ICA compression in a limited resources condition. CASE PRESENTATION: A 38-year-old female presented with acute onset of severe headache, decreased level of consciousness, decreased visual acuity bilaterally, aphasia, and right hemiparesis. Computed tomography angiography showed a hyperdense sellar mass with stenosis of the left ICA. The patient underwent emergent endoscopic transsphenoidal surgery for sellar decompression. CLINICAL DISCUSSION: The epidermiology, presentation and diagnosis and strategy of treatments as well as their outcomes were discussed. CONCLUSION: Pituitary apoplexy should be taken into consideration in a patient with increasing headache and neuro-ophthalmic symptoms. Pituitary apoplexy presenting as cerebral infarction is rare. The aim of surgery in emergency setting was sellar decompression. Endoscopic transsphenoidal surgery was an effective treatment.
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INTRODUCTION AND IMPORTANCE: Epidermoid cysts are rare benign tumors. Here, we present a case of spontaneous intradural epidermoid cyst at cauda equina level in a 9-year-old patient, which we believed the first case to be reported in Vietnam. CASE PRESENTATION: A 9-year-old boy presented with 4 months of spontaneous left lower extremity muscle weakness and paresthesia. The MRI images suggested the diagnosis of intradural epidermoid cyst at cauda equina level. The patient underwent L5-S1 laminectomy and durotomy for tumor resection. The histology confirmed the diagnosis of epidermoid cyst. Post-operative images demonstrated total cyst removal. CLINICAL DISCUSSION: The epidermiology, presentation and diagnosis and strategy of treatments as well as their outcomes were discussed. CONCLUSION: Diagnosis of spinal epidermoid cyst is often delayed for its obscure presentation. Microsurgical dissection along with intra-operative mobile C-Arms enable total tumor resection while preserving spinal stability and neurological function. Follow-up with post-operative magnetic resonance imaging and tumor marker are helpful.
RESUMEN
INTRODUCTION AND IMPORTANCE: Trigeminal neuralgia (TN) secondary to vertebrobasilar dolichoectasia (VBD) was a rare condition. This paper reported a successful endoscopic-assisted microvascular decompression (MVD) for TN secondary to VBD. CASE PRESENTATION: A 53-year-old male with a history of myocardial infarction and heart failure complained of left refractory facial pain three years prior to admission. His pain was intermittent, electrical-like, severe, sharp, and radiated along the maxillary and mandibular branches. He used carbamazepine 600 mg daily. Brain magnetic resonance imaging revealed a neurovascular conflict between VBD and the left trigeminal nerve. The endoscopic-assisted MVD was indicated. The shredded neurosurgical sponges were interposed between VBD and trigeminal nerve. The 0° and 30° rigid rod-lens endoscope was used to explore and confirm the complete decompression. Postoperatively, TN was disappeared entirely. At a three-month postoperative, no facial pain and paraesthesia were found. The patient discontinued carbamazepine permanently. CLINICAL DISCUSSION: MVD was still the most effective treatment. An inspection of root entry zone (REZ) and complete MVD with a solely operating microscope were challenging due to the massive diameter of VBD and multiple offending arteries behind the VBD. However, the wide viewing field and high-quality resolution of endoscopes allowed better visualization of REZ and neurovascular conflicts behind neural structures and least cerebellar retraction. This is essential in case of less potential space created by VBD. CONCLUSION: Endoscope-assisted MVD allowed better visualization of REZ and neurovascular conflicts behind neural structures and least cerebellar retraction in management of trigeminal neuralgia secondary to VBD.
RESUMEN
INTRODUCTION: Infection is a rare complication of intradural dermoid cyst. We reported an infected intradural dermoid cyst without dermal sinus tract mimicking brain abscess. PRESENTATION OF CASE: A 4-year-old boy with no medical history complained of a palpable mass on his head. On examination, the occipital palpable mass was firm and immobile, had no redness, swelling, and pain. The preoperative MRI showed a well-defined, ring-enhancing lesion. White blood count was 12.8â¯×â¯109⯠cells/liter. We have sought no other infection sites. We encountered intraoperatively the pus from the infected mass invading subcutaneous layer and skull bone. We excised completely the tumor and carefully coagulated the residual capsule invading superior sagittal sinus. Histopathological examination was infected dermoid cyst. The infection agent was Staphylococcus aureus. The patient was received systemic antibiotic therapy for 21 days following oral antibiotics for 1 month. He was discharged with no complications. DISCUSSION: The diagnosis of infected dermoid cyst was often based on MRI images and especially dermal sinus tract. However, in the absence of a dermal sinus tract, preoperative diagnosing an infected dermoid cyst might be very challenging. The ideal treatment of the dermoid cyst was total resection of the cyst with the epithelial lining. Nevertheless, due to the benign nature of dermoid cyst, adequate gross total resection with meticulous hemostasis the residual capsule firmly adhering eloquent areas and major vessels was more appropriate. CONCLUSION: Diagnosing infected dermoid cyst with no dermal sinus might be challenging. Systemic antibiotic therapy after gross total resection was an effective treatment.
RESUMEN
The rhodium-catalyzed asymmetric ring opening reaction of oxabicyclic alkenes is shown to be an efficient method for synthesizing chiral heterocycles. We demonstrate that the pairwise combination of chiral catalyst with chiral amino-acid-derived pronucleophiles results in a stereodivergent synthesis of diastereomeric hydroxyesters. A favorable conformational preference induces the subsequent lactonization of one diastereomer leading to the highly enantioselective synthesis of oxazinones.