Cervicofacial Rhabdomyosarcoma - Success of a Free Fibular Graft.

Cervicofacial rhabdomyosarcoma (RMS) presents surgical complexities in children due to its aggressive nature. This study presents a successful case of oral RMS treatment with a free fibular graft in a 7-year-old patient. Despite follow-up challenges, the efficacy of the approach is evident.

A tri-serine cluster within the topoisomerase IIα-interaction domain of the BLM helicase is required for regulating chromosome breakage in human cells.

The recQ-like helicase BLM interacts directly with topoisomerase IIα to regulate chromosome breakage in human cells. We demonstrate that a phosphosite tri-serine cluster (S577/S579/S580) within the BLM topoisomerase IIα-interaction region is required for this function. Enzymatic activities of BLM and topoisomerase IIα are reciprocally stimulated in vitro by ten-fold for topoisomerase IIα decatenation/relaxation activity and three-fold for BLM unwinding of forked DNA duplex substrates. A BLM transgene encoding alanine substitutions of the tri-serine cluster in BLM-/- transfected cells increases micronuclei, DNA double strand breaks and anaphase ultra-fine bridges (UFBs), and decreases cellular co-localization of BLM with topoisomerase IIα. In vitro, these substitutions significantly reduce the topoisomerase IIα-mediated stimulation of BLM unwinding of forked DNA duplexes. Substitution of the tri-serine cluster with aspartic acids to mimic serine phosphorylation reverses these effects in vitro and in vivo. Our findings implicate the modification of this BLM tri-serine cluster in regulating chromosomal stability.

Sacrococcygeal Teratoma: Clinical Characteristics, Management, and Long-term Outcomes in a Prospective Study from a Tertiary Care Center.

INTRODUCTION: The study focuses on the clinical presentation, management, and outcomes (both short term and long term) in patients with sacrococcygeal teratoma managed over a decade in a tertiary care center. MATERIALS AND METHODS: This is a prospective study on children with sacrococcygeal teratoma over 12 years data collected included antenatal diagnosis, mode of delivery, age at diagnosis, clinical presentation, physical extent of mass (including Altman classification), levels of alpha-fetoprotein, surgical approach, histopathology, clinical outcome, recurrence and long-term results including bladder-bowel dysfunction and neurological impairment. Functional results were evaluated clinically and radiologically. RESULTS: During the study, 41 patients (male to female ratio of 1:3.1) with a median age of 36 days (1 day-11.6 years) with sacrococcygeal teratoma were managed at our center. The mean follow-up duration was 54 months (range 19-110 months). Nearly, two-thirds of the tumors were either Altman Type 1 or 2. Yolk sac tumor was present in 8 (19.5%) patients, while the rest has either mature or immature teratoma. Tumors were removed through a posterior sagittal or a chevron incision. In seven patients, abdominosacral approach was necessary. Eight patients with malignant disease received chemotherapy (neoadjuvant in 5). Overall survival was 95% at a mean follow-up of 54 months. Among the late complications, three patients had a local recurrence of tumor, and urinary dribbling was present in three patients. CONCLUSIONS: Teratomas are the most common germ cell tumors of the sacrococcygeal region. Most of the tumors are benign, and the incidence of malignancy increases with age. The evaluation of malignancy is, therefore, necessary in these children. Excellent survival of 95% was achieved in this series. Morbidity due to associated malformation, disease recurrence, and treatment may persist in these patients; hence, proper follow-up is needed.

Surgical Surprise during Posterior Sagittal Anorectoplasy: A Rectal Duplication.

An 8-month-old boy with anorectal malformation (ARM) was incidentally found to have double rectal pouches during posterior sagittal anorectoplasty. The distal blind-ending pouch was excised, and the larger proximal pouch was tapered and anorectoplasty performed. The excised pouch was confirmed as rectal duplication cyst. One must be aware of such uncommon associations with ARM.

Total Intestinal Atresia: Revisiting the Pathogenesis of Congenital Atresias.

Despite various theories to explain the pathogenesis of atresias, the exact mechanism is still controversial. Currently, atresias are believed to result from vascular accidents and less likely due to the failure of recanalization. We report a case which challenges this belief. A 1-day-old neonate was explored for suspected jejunal atresia. Apart from Type III jejunal atresia, 15 cm from DJ junction, there was surprisingly no distal lumen in the intestine from jejunum till rectum. Multiple enterotomies revealed the whole of the remaining jejunum, ileum, and large colon to be a solid cord-like structure. No distal luminal contents or histopathological evidence of ischemic damage was seen, thus suggesting the probable etiology to be a failure of recanalization of the gut cord rather than a late vascular accident. Such rare cases provide insights into possible embryogenetic mechanisms which can then aid in formulating preventive measures.

Evaluation of two-staged Fowler-Stephens laparoscopic orchidopexy (FSLO) for intra-abdominal testes (IAT).

INTRODUCTION: The best operative intervention for intrabdominal testis (IAT) has not been standardized as yet. The question of whether to bring down an IAT with a single-staged vessel-intact laparoscopic orchidopexy (VILO) or a two-staged laparoscopic Fowler-Stephens orchidopexy (FSLO) is still undergoing debate, with both the procedures being popular. The present study has been designed to evaluate the factors predicting the success or failure of two-staged FSLO for (IAT). METHODS: 43 boys with 49 non-palpable testes underwent diagnostic laparoscopy out of which 35 underwent two-staged FSLO. Size of the testis was measured with a graduated probe in both stages. Independent variables such as age, height, testis-to-internal ring distance (T-IR), neo internal ring-to-midscrotal distance (NIR-MS), and mobility-to-contralateral ring (MCIR) were analysed. Postoperatively 34 IATs were followed up clinically as well as ultrasonologically after 6 months, to see for the size, position, and vascularity. Based on this, the patients were divided into two groups, Group A (successful) and Group B (Failed). RESULTS: 24 IATs had a successful outcome (Group A) and 11 were failure (Group B). The overall success rate of the study was 68.6%. The difference in mean age of patients in both groups was insignificant (p = 0.89) (Fig. 1), and similarly, the difference in mean height was insignificant (p = 0.61). The difference in mean T-IR in both the groups was insignificant (1.85 versus 2.77 cm; p = 0.09) and mean NIR-MS was 5.41 cm in Group A and 5.10 cm in Group B, and the difference again was insignificant (p = 0.23). CONCLUSION: The success rate of FSLO was 68.6%. None of the above-described independent variables have any effect on the outcome of two-staged FSLO. While VILO remains the treatment of choice for IAT located at or near the ring, but IAT higher than this, two-staged FSLO gives a better chance for achieving intra-scrotal orchidopexy.

BLM helicase facilitates RNA polymerase I-mediated ribosomal RNA transcription.

Bloom's syndrome (BS) is an autosomal recessive disorder that is invariably characterized by severe growth retardation and cancer predisposition. The Bloom's syndrome helicase (BLM), mutations of which lead to BS, localizes to promyelocytic leukemia protein bodies and to the nucleolus of the cell, the site of RNA polymerase I-mediated ribosomal RNA (rRNA) transcription. rRNA transcription is fundamental for ribosome biogenesis and therefore protein synthesis, cellular growth and proliferation; its inhibition limits cellular growth and proliferation as well as bodily growth. We report that nucleolar BLM facilitates RNA polymerase I-mediated rRNA transcription. Immunofluorescence studies demonstrate the dependance of BLM nucleolar localization upon ongoing RNA polymerase I-mediated rRNA transcription. In vivo protein co-immunoprecipitation demonstrates that BLM interacts with RPA194, a subunit of RNA polymerase I. (3)H-uridine pulse-chase assays demonstrate that BLM expression is required for efficient rRNA transcription. In vitro helicase assays demonstrate that BLM unwinds GC-rich rDNA-like substrates that form in the nucleolus and normally inhibit progression of the RNA polymerase I transcription complex. These studies suggest that nucleolar BLM modulates rDNA structures in association with RNA polymerase I to facilitate RNA polymerase I-mediated rRNA transcription. Given the intricate relationship between rDNA metabolism and growth, our data may help in understanding the etiology of proportional dwarfism in BS.

Collaborating functions of BLM and DNA topoisomerase I in regulating human rDNA transcription.

Bloom's syndrome (BS) is an inherited disorder caused by loss of function of the recQ-like BLM helicase. It is characterized clinically by severe growth retardation and cancer predisposition. BLM localizes to PML nuclear bodies and to the nucleolus; its deficiency results in increased intra- and inter-chromosomal recombination, including hyper-recombination of rDNA repeats. Our previous work has shown that BLM facilitates RNA polymerase I-mediated rRNA transcription in the nucleolus (Grierson et al., 2012 [18]). This study uses protein co-immunoprecipitation and in vitro transcription/translation (IVTT) to identify a direct interaction of DNA topoisomerase I with the C-terminus of BLM in the nucleolus. In vitro helicase assays demonstrate that DNA topoisomerase I stimulates BLM helicase activity on a nucleolar-relevant RNA:DNA hybrid, but has an insignificant effect on BLM helicase activity on a control DNA:DNA duplex substrate. Reciprocally, BLM enhances the DNA relaxation activity of DNA topoisomerase I on supercoiled DNA substrates. Our study suggests that BLM and DNA topoisomerase I function coordinately to modulate RNA:DNA hybrid formation as well as relaxation of DNA supercoils in the context of nucleolar transcription.

A case of intradural lumbar disc herniation.

Key Clinical Message: MRI remains the best tool in the diagnosis of this disease entity however preoperative diagnosis remains a difficult task. A high degree of suspicion is raised when intraoperative findings and preoperative image description become incompatible. Abstract: Lumbar disc herniation into the dural space is a rare phenomenon of lumbar disc degeneration with an unclear remaining pathogenesis. Intraoperative ultrasonography and histopathological examination of resected specimen help in the diagnosis of intradural disc herniation. Prompt surgery is recommended due to the high incidence of cauda equina syndrome.

Orbital Apex Syndrome caused by invasive aspergillosis in patient with post-Covid-19 infection - A case report.

INTRODUCTION AND IMPORTANCE: Orbital Apex Syndrome (OAS) are characterized by multiple symptoms, such as impaired eye movement, periorbital pain, and visual disturbance. AS symptoms may be caused by inflammation, infection, neoplasm, or a vascular lesion, potentially involving a variety of nerves, such as the optic, oculomotor, trochlear or abducens, or the ophthalmic branch of the trigeminal nerve. However, OAS caused by invasive aspergillosis in post-COVID patient is a very rare phenomenon. CASE PRESENTATION: A 43-year-old male with a history of diabetes mellitus and hypertension who had recently recovered from a COVID-19 infection developed blurred vision on the left eye field, followed by impaired vision on left eye field for 2 months then retro-orbital pain for a further 3 months. The blurring of vision and headache developed soon after recovering from COVID-19 and was progressive in left eye field. He denied any symptoms of diplopia, scalp tenderness, weight loss, or jaw claudication. The patient was treated with IV methylprednisolone for 3 days with as diagnosis of optic neuritis, followed by a course of oral corticosteroid therapy (prednisolone, starting at 60 mg for 2 days and then tapered for 1 month), which produced transient relief of symptoms that recurred when prednisone was discontinued. Then repeat MRI was perform with no evidence of lesion; treated again in a line of optic neuritis and symptoms relief transiently. After reoccurrence of symptoms repeat MRI was perform which showed a heterogeneously enhancing intermediate signal intensity lesion in the left orbital apex. The lesion was encasing and compressing the left optic nerve, without abnormal signal intensity or contrast enhancement within the left optic nerve either proximal or distal to the lesion. The lesion was contiguous with focal asymmetric enhancement in the left cavernous sinus. No inflammatory changes were seen in the orbital fat. CLINICAL DISCUSSION: OAS due to invasive fungal infection is uncommon and most often caused by Mucorales spp., or Aspergillus, particularly in those with immunocompromising conditions or uncontrolled diabetes mellitus. In OAS due to Aspergillosis urgent treatment is necessary to avoid complications such as complete vision loss and cavernous sinus thrombosis. CONCLUSION: OASs, represent a heterogenous group of disorders that results from a number of etiologies. OAS in a background of COVID-19 pandemic can be due to invasive Aspergillus infection as in our patient without any systemic illness and lead to miss diagnosis and delay in proper treatment.

Pediatric Appendicitis Score or Ultrasonography? In Search of a Better Diagnostic Tool in Indian Children with Lower Abdominal Pain.

OBJECTIVES: To prospectively assess the performance of pediatric appendicitis score (PAS) in diagnosing acute appendicitis in the children with lower abdominal pain and correlated with ultrasound findings; and to assess the impact of the PAS on clinical outcome and its efficacy in differentiating between complicated and uncomplicated appendicitis. METHODS: A prospective study was done which included cases of lower abdominal pain. Appendectomy was done for PAS ≥ 6, and diagnosis was confirmed on histopathology. A receiver operator characteristic (ROC) curve was created to assess the PAS performance. The sensitivity, specificity, and accuracy of ultrasonography in diagnosing appendicitis were assessed, and analysis of agreement between ultrasonography and PAS score was done by kappa statistics. RESULTS: Of 260 cases with lower abdominal pain, 205 were suspected of having appendicitis. One hundred fifty-nine had PAS ≥ 6. There were 2/159 (1.26%) cases of negative appendectomies and 2/46 (4.34%) cases of missed appendicitis. The mean PAS was significantly higher in patients with appendicitis than in those without appendicitis. The area under the ROC curve was 0.9925. Sensitivity, specificity, and positive and negative predictive value of PAS were 98.74%, 95.65%, 95.7% and 95.65%, respectively. Complicated appendicitis had significantly more PAS, fever, and cough tenderness than uncomplicated appendicitis. The sensitivity and specificity of ultrasonography were 86.79% and 17.39%, respectively. Agreement between ultrasonography-proven appendicitis and PAS-dependent appendicitis was weak. CONCLUSION: PAS has high efficacy in diagnosing acute appendicitis. Clinical outcome was more favorable with the use of PAS. Ultrasonography should be used judiciously and in combination with clinical judgment.

Spectrum of congenital lung and foregut malformations: scope for awareness and prompt management-a case series.

Congenital lung and foregut malformations have been described in literature, but most articles are from the Western world. There are a separate set of problems which are faced in our country especially with the misdiagnosis of these problems which has not so much been addressed in writing. We retrospectively reviewed records of all patients with above thoracic lesions treated at a tertiary care hospital in Delhi from March 2017 to December 2019. Twenty patients were found. Eight of 20 patients were detected antenatally but none monitored serially. Age at presentation ranged from 5 days to 18 months. Eight patients presented with respiratory distress at birth. Three of these were congenital lobar emphysema wrongly diagnosed as pneumothorax and brought with intercostal drainage tube inserted. Eight suffered from pneumonia, 4 of which had history of previous hospital admission but undetected congenital pathology. All underwent surgery and had good outcome. There was radiological evidence of compensatory lung growth in all patients at 6 months follow-up. Thus, we conclude that the antenatal detection of congenital lung and foregut malformations may have increased but proper serial monitoring is still missing. There is scope of increasing index of suspicion for these lesions among pediatricians and surgeons. With modern-day safe anesthesia, proactive resection of congenital lung and foregut malformations is associated with good outcome. Delaying treatment predisposes the child to infective complications and makes surgery difficult.

Surgical Management among Patients with Spontaneous Supratentorial Intracerebral Haemorrhage Admitted in a Tertiary Care Centre: A Descriptive Cross-sectional Study.

Introduction: Spontaneous intracerebral haemorrhage is the second most common form of stroke and the most deadly one. An understanding of changing trends in the epidemiology of intracerebral haemorrhage prevalence, its risk factors, current practice in management, case fatality, and long-term outcome is essential to measure the effectiveness of stroke prevention and various treatment efforts. The objective of this study was to find out the prevalence of surgical management among patients with spontaneous supratentorial intracerebral haemorrhage in a tertiary centre. Methods: A descriptive cross-sectional study was conducted in the Department of Neurosurgery from January 2017 to December 2019. Ethical approval was obtained from the Institutional Review Committee (Reference number: 06/2020/IRC-ANIAS). A convenience sampling method was used. Data of the patients were retrieved from online medical records. Point estimate and 95% Confidence Interval were calculated. Results: Among 221 patients with spontaneous supratentorial intracerebral haemorrhage, 115 (52.04%) (45.45-58.63, 95% Confidence Interval) underwent surgical management. In-hospital mortality was seen in 23 (20%) and survivors at 3 months were 78 (67.82%) patients. Conclusions: The prevalence of surgical management among spontaneous supratentorial intracerebral haemorrhages was higher than in other studies done in a similar setting. Keywords: intracerebral haemorrhage; mortality; surgical procedure.

Venture of a Tertiary Care Neurosurgical Center in Course of COVID-19 Lockdown without RT-PCR.

"I will not permit considerations of age, disease or disability, creed, ethnic origin, gender, nationality, political affiliation, race, sexual orientation, social standing or any other factor to intervene between my duty and my patient." Obliged by the aforementioned oath, no medical practitioner shall sit in a moral judgment on any patient but will treat their illness to the best of their ability whatever the circumstances. A clear concord was yet to be authorized after the World Health Organization (WHO) declared the global pandemic of severe acute respiratory syndrome coronavirus 2infection. As a diagnostic modality, WHO recommended real-time reverse transcription-polymerase chain reaction (RT-PCR) as a reliable test; however, its availability in a deprived nation like ours became a major restraining factor. Despite an asset of having high specificity, RT-PCR for coronavirus disease 2019has its own liability of having low sensitivity. Henceforth, as time passed by, the validity of the rapid diagnostic tests was put into question. In later months, a few centers around our periphery started conducting RT-PCR, but the time taken to obtain the result was long-drawn-out process and the patient who needed urgent neurosurgical intervention at Annapurna Neurological Institute and Allied Sciences had to wait. We would like to share our expedition through peaks and valleys of managing 215 patients during the vicious circle of lockdown and global pandemic.

A case of postpartum chronic subdural hematoma.

Headache is a common presentation during postpartum period. Anesthesiologist, obstetrician, and neurosurgeon should be aware of the possibility of subdural hematoma in patient complaining of headache following spinal anesthesia.

Isolated Medial Dislocation of Elbow: A Case Report.

Even though posterior or postero-lateral dislocations of elbow are more common, both isolated medial and lateral dislocations of elbow are extremely uncommon. Since there are subtle findings and minimum pain after medial dislocation of elbow, these are sometimes missed by attending physician at first presentation and changes into chronic type with guarded prognosis. We report a case of a 15-year old boy with isolated medial dislocation of elbow which was correctly identified and treated with closed reduction and posterior slab application. Flexion extension as well as supination pronation of elbow 3 months after injury was nearly normal.

Primary anastomosis in difficult cases of type "C" esophageal atresia: The atraumatic microvascular clamp technique of minimal tension with good outcome.

BACKGROUND: Surgical maneuvers for esophageal anastomosis in difficult cases of Gross type "C" esophageal atresia (EA) are challenging. The methods of early primary anastomosis are technically difficult and staged surgeries expose the child to repeated general anesthesia with problems of nursing care. We describe a simple method of partial disconnection of the lower esophagus from the fistula followed by approximation by an atraumatic microvascular clamp. The suitability of this method and its outcomes are discussed. METHODS: It was a prospective observational study that included 32 patients of type "C" EA between January 2014 and December 2016. Babies with birth weight more than 2 kg without cyanotic heart defects and requirement of intensive care were included. An early primary anastomosis using this technique was tried in all. A cervical esophagostomy with feeding gastrostomy was done where it was not possible. Analysis of the gap and post operative outcomes i.e. gastroesophageal reflux (GER), stricture, tracheomalacia, dysmotility, recurrence and survival were analyzed. RESULTS: The mean gap between esophageal ends was 4.3 cm. Primary anastomosis was possible in 26 (81.25%). Minor and major leak occurred in 3 (11.54%) and 1 (3.85%) patients respectively. Survival was 84.62% (22/26). All mortalities were early post operative. During mean follow up of 23.73 months (till December 2019), GER decreased from 63.64% (14/22) to 13.64% (3/22), partial stricture was seen in 18.18% (4/22), tracheomalacia in 36.36% (8/22) and dysmotility in 77.27% (17/22). There was no recurrence of fistula. Complications with this method did not show any significant difference as mentioned with other methods. CONCLUSION: This technique seems to be physiologically suitable as it enables anastomosis with minimal trauma to the esophageal ends. It is easy, reproducible and produces favorable outcomes comparable with other methods for difficult cases of type "C" esophageal atresia (EA).

A case report of multiple isolated intradural neurocysticercosis of the lumbo-sacral spine.

INTRODUCTION AND IMPORTANCE: Neurocysticercosis is the most common parasitic infection of the nervous system and it is mostly intracranial. Intradural intramedullary or extramedullary is the rarest involvement of intraspinal cysticercosis. Its isolated involvement is even rare, as it usually has intracranial association. We aim to report a rare case of isolated intraspinal neurocysticercosis and discuss the measures we can take for early management. Despite being an eradicable disease of public health importance, its prevalence is increasing widely in developed countries too. Therefore, we aim to discuss its pathogenesis, mode of spread, and preventive aspects as well. PRESENTATION OF CASE: A 40-year-old woman presented to our hospital with pain over the lower back region radiating to the right thigh. Magnetic Resonance Imaging (MRI) of her lumbosacral spine revealed a cystic lesion at the spinal level L5-S1. We confirmed the diagnosis via Histopathological examination (HPE) following surgery. DISCUSSION: Isolated intradural neurocysticercosis of the spine is extraordinarily rare involvement. It is caused by the larval stage of taenia solium. An MRI is the preferred imaging modality. Due to rarity and nonspecific clinic-radiological findings, diagnosis may often be missed. In our case, MRI revealed a cystic lesion at the L5-S1 level of the spine and multiple cystic lesions at the level were found intra-operatively. Its diagnosis is confirmed by HPE. Treatment can be medical or surgical according to the severity of the disease. CONCLUSION: Although rare, neurocysticercosis can cause irreversible neurological damage. Therefore, surgeons should consider it in the differential diagnosis of intraspinal lesions.

Gastric pull-up by the retrosternal route for esophageal replacement: Feasibility in a limited-resource scenario.

OBJECTIVES: The authors herein report the results of esophageal replacement by gastric pull-up technique through the retrosternal route as an option for esophageal replacement in a resource-constrained setup. METHOD: Prospectively collected data upon twenty-two consecutive patients (male:female = 17:5) with mean age 24.9 months (7 months-12 years) and mean weight 7.9 kg (4.2-32 kg) who underwent retrosternal gastric pull-up for esophageal atresia (n = 18; 16 atresia with distal fistula & 2 pure atresia) and corrosive injuries to the esophagus (n = 4) over the past 8 years are presented. The management protocol and surgical technique have been described. Observations parameters included indication for esophageal replacement, age at surgery, sex of the child and other demographic details, clinical and operative findings, post-operative outcomes and follow-up details. RESULTS: Retrosternal gastric pull-up could be performed in all cases with no mortality or graft loss. Of 22, 20 cases were extubated on-table and 2 cases were extubated within 48 hours of surgery. Mean operative duration was 265 min (range: 175 min to 310 min) and blood loss was 115.3 ml (range: 80-400 ml). Dense vascular adhesions in the region of the esophageal hiatus were encountered in patients with abdominal esophagostomy (n = 4) which were probably related to the local dissection at the time of previous surgery. Minor anastomotic leak was observed in 8 of 22 patients which settled spontaneously over 21 days mean period (range: 18 to 31 days). Antegrade dilatation was required in 3 of 8 cases with minor leak. None of them required revision of anastomosis. Mean follow-up duration is 63 months (range: 11 months - 94 months). Weight gain after surgery was close to or beyond the 25th centile. Symptoms of dumping syndrome or GER were not observed in our cohort. CONCLUSION: Our data have demonstrated the safety and feasibility of esophageal replacement by gastric transposition through the retrosternal route in a resource-limited setup. No significant difference has been observed from the results and complications reported in literature for the same procedure. TYPE OF STUDY: Prospective observational study / treatment study. LEVEL OF EVIDENCE: Level III.