scholarly journals Hemiscrotal agenesis: a novel phenotype of a rare malformation

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Mohamed Mansy ◽  
Mostafa Kotb ◽  
Yasmine Abdelmeguid ◽  
Shaymaa Raafat ◽  
Marwa Abdelaziz
Keyword(s):  
Lower Limb ◽  
Septal Defect ◽  
English Literature ◽  
Pathological Examination ◽  
Molecular Diagnostic ◽  
Cerebellar Hypoplasia ◽  
Scrotal Skin ◽  
Skin Tag ◽  
Perineal Skin ◽  
The Right

Abstract Background Hemiscrotal agenesis (HSA) is an exceedingly rare congenital anomaly in scrotal development. It is characterized by unilateral absence of scrotal skin with intact midline raphe. In the English literature, only seven patients were diagnosed with HSA. Herein, we report a 14-month-old boy with HSA, unilateral cryptorchidism and a perineal skin tag. Additionally, the patient had a monodactylous limb, unilateral cerebellar hypoplasia, and a cardiac septal defect. Case presentation A 14-month-old boy presented with right HSA and ectopic scrotal skin in the right perineal region. Extra-genital examination showed right monodactylous lower limb, without dysmorphic facial features or any other skeletal anomalies. His karyotype was 46, XY, while his hormonal profile showed prepubertal LH and FSH. Skeletal survey showed right monodactylous lower limb (with only a big toe which had 2 phalanges) and normal spine alignment. A previous echocardiography was done and showed a small muscular ventricular septal defect (VSD) that closed on follow-up. Magnetic resonance imaging of the brain showed posterior fossa malformation. The patient had his right testis fixed in the right scrotum. The pathological examination of the perineal lesion showed fibro-epithelial polyp (skin tag), with no testicular tissue or atypia. Conclusion We believe that this is the first case to be reported with hemiscrotal agenesis and ipsilateral cryptorchidism, associated with a perineal skin tag, unilateral monodactylous lower limb on the same side, unilateral cerebellar hypoplasia, and VSD. Interestingly, further genetic analysis is required to reach a final diagnosis. However, regrettably, advanced molecular diagnostic studies for this patient is not available in our country.

Closure of Secundum Atrial Septal Defect with Autologous Right Atrial Patch: Case Report

2005 ◽  
Vol 8 (2) ◽  
pp. 96 ◽  
Author(s):  
Osman Tansel Dar�in ◽  
Alper Sami Kunt ◽  
Mehmet Halit Andac
Keyword(s):  
Atrial Septal Defect ◽  
Right Atrium ◽  
Septal Defect ◽  
Complete Recovery ◽  
Interatrial Septum ◽  
Right Atrial ◽  
Atrial Wall ◽  
Residual Shunt ◽  
Asd Closure ◽  
The Right

Background: Although various synthetic materials and pericardium have been used for atrial septal defect (ASD) closure, investigators are continuing to search for an ideal material for this procedure. We report and evaluate a case in which autologous right atrial wall tissue was used for ASD closure. Case: In this case, we closed a secundum ASD of a 22-year-old woman who also had right atrial enlargement due to the defect. After establishing standard bicaval cannulation and total cardiopulmonary bypass, we opened the right atrium with an oblique incision in a superior position to a standard incision. After examining the secundum ASD, we created a flap on the inferior rim of the atrial wall. A stay suture was stitched between the tip of the flap and the superior rim of the defect, and suturing was continued in a clockwise direction thereafter. Considering the size and shape of the defect, we incised the inferior attachment of the flap, and suturing was completed. Remnants of the flap on the inferior rim were resected, and the right atrium was closed in a similar fashion. Results: During an echocardiographic examination, neither a residual shunt nor perigraft thrombosis was seen on the interatrial septum. The patient was discharged with complete recovery. Conclusion: Autologous right atrial patch is an ideal material for ASD closure, especially in patients having a large right atrium. A complete coaptation was achieved because of the muscular nature of the right atrial tissue and its thickness, which is a closer match to the atrial septum than other materials.

Delayed Closure of Multiple Muscular Ventricular Septal Defects in an Infant after Coarctation Repair and a Hybrid Procedure�A Case Report

2011 ◽  
Vol 14 (1) ◽  
pp. 67 ◽  
Author(s):  
Ireneusz Haponiuk ◽  
Maciej Chojnicki ◽  
Radosaw Jaworski ◽  
Jacek Juciski ◽  
Mariusz Steffek ◽  
...  
Keyword(s):  
Septal Defect ◽  
Color Doppler ◽  
Hybrid Approach ◽  
Ventricular Septal Defects ◽  
Color Doppler Echocardiography ◽  
Septal Defects ◽  
Coarctation Repair ◽  
Step Procedure ◽  
The Right ◽  
Delayed Closure

There are several strategies of surgical approach for the repair of multiple muscular ventricular septal defects (mVSDs), but none leads to a fully predictable, satisfactory therapeutic outcome in infants. We followed a concept of treating multiple mVSDs consisting of a hybrid approach based on intraoperative perventricular implantation of occluding devices. In this report, we describe a 2-step procedure consisting of a final hybrid approach for multiple mVSDs in the infant following initial coarctation repair with pulmonary artery banding in the newborn. At 7 months, sternotomy and debanding were performed, the right ventricle was punctured under transesophageal echocardiographic guidance, and the 8-mm device was implanted into the septal defect. Color Doppler echocardiography results showed complete closure of all VSDs by 11 months after surgery, probably via a mechanism of a localized inflammatory response reaction, ventricular septum growth, and implant endothelization.

Sacral plexus disorder caused by a wooden toothpick in the rectum

2021 ◽  
Vol 14 (1) ◽  
pp. e238690
Author(s):  
Takuro Endo ◽  
Taku Sugawara ◽  
Naoki Higashiyama
Keyword(s):  
Lower Limb ◽  
Spinal Nerve ◽  
Leg Pain ◽  
Sacral Plexus ◽  
Lateral Recess ◽  
Lateral Recess Stenosis ◽  
Preoperative Ct ◽  
History Of ◽  
History Of Pain ◽  
The Right

A 67-year-old man presented with a 2-month history of pain in his right buttock and lower limb. MRI depicted right L5/S1 lateral recess stenosis requiring surgical treatment; however, preoperative CT showed an approximately 7 cm long, thin, rod-shaped structure in the rectum, which was ultimately determined to be an accidentally ingested toothpick. It was removed surgically 6 days after diagnosis, because right leg pain worsened rapidly. The pain disappeared thereafter, and the symptoms have not recurred since. The pain might have been localised to the right buttock and posterior thigh in the early stages because the fine tip of the toothpick was positioned to the right of the anterior ramus of the S2 spinal nerve. Although sacral plexus disorder caused by a rectal foreign body is extremely rare, physicians should be mindful to avoid misdiagnosis.

scholarly journals Severe bone disease caused by primary hyperparathyroidism: a case report and review of the literature

2020 ◽  
Vol 48 (10) ◽  
pp. 030006052096648
Author(s):  
Yu Wang ◽  
Jie Liu
Keyword(s):  
Case Report ◽  
Primary Hyperparathyroidism ◽  
Bone Disease ◽  
Distal Humerus ◽  
Left Lobe ◽  
Pathological Examination ◽  
Hypoechoic Mass ◽  
Brown Tumors ◽  
Restricted Mobility ◽  
The Right

Bone disease is an important complication of hyperparathyroidism. We herein report a rare case of severe bone disease caused by primary hyperparathyroidism. A 33-year-old man presented with pain and restricted mobility in his right upper limb and right hip due to a fall 3 days previously. X-ray examination showed a fracture of the proximal and distal humerus. Computed tomography examination showed a supracondylar fracture of the right humerus, a fracture of the right femoral neck, a fracture of the right sciatic branch, and multiple brown tumors. Ultrasonography showed a 3.5- × 1.6-cm hypoechoic mass below the left lobe of the thyroid. The patient was diagnosed with primary hyperparathyroidism based on increased serum calcium and parathormone concentrations, pathological fractures, and multiple brown tumors. He therefore underwent bilateral lower parathyroidectomy. Pathological examination revealed a parathyroid adenoma. The patient recovered well after surgery and was followed up for 6 months with no symptoms of hyperparathyroidism. This case report suggests that clinicians should be aware of the possibility of severe bone disease secondary to primary hyperparathyroidism. Active and early diagnosis and surgical treatment are important in such cases.

scholarly journals Laparoscopic Resection of Renal Capsular Endometriosis in a Woman with Menstrual-Related Flank Pain: Case Report

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Abbas Basiri ◽  
Iman Ghanaat ◽  
Hamidreza Akbari Gilani
Keyword(s):  
Flank Pain ◽  
Pathological Examination ◽  
Histologic Evaluation ◽  
Normal Renal Parenchyma ◽  
Perinephric Space ◽  
Superior Portion ◽  
The Right ◽  
First Time ◽  
Laparoscopic Removal

Abstract Background Although involvement of the urinary system is not uncommon, endometriosis in the kidneys is rare. To date, laparoscopic partial nephrectomy has been the preferred approach for managing renal endometriosis. Here, we report for the first time the results of laparoscopic removal of a renal capsular endometriosis in a malrotated kidney in an attempt to save the whole kidney parenchyma, in terms of feasibility and safety. Case presentation A 37-year-old female presented with periodic right flank pain associated with her menstrual cycle. On imaging, a malrotated right kidney and a hypodense irregular-shaped lesion measuring 30 * 20 * 15 mm were seen in the superior portion of the right perinephric space. Histologic evaluation of the ultrasound-guided biopsy was consistent with renal capsular endometriosis. The patient underwent laparoscopic surgery to remove the capsular mass while preserving the normal renal parenchyma. Pathological examination of the biopsy obtained during surgery was in favor of renal endometriosis. At 6-month follow-up, the patient’s pain had completely disappeared and no complications had occurred. In addition, imaging did not show any remarkable recurrence. Conclusion Renal endometriosis should be strongly considered as a differential diagnosis in female patients with a renal capsular mass and exacerbation of flank pain during menstruation. Based on our experience, with preoperative needle biopsy and clearing the pathology, laparoscopic removal of the mass in spite of renal anatomic abnormality is feasible and safe and thus could be considered as a possible treatment option.

scholarly journals preoperative right ventricular overwork is a major determinant of residual pulmonary arterial hypertension in patients with repaired arterial septal defect

2021 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
M Suzuki ◽  
Y Tanaka ◽  
K Yamashita ◽  
A Shono ◽  
K Sumimoto ◽  
...  
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Right Ventricular ◽  
Septal Defect ◽  
Hazard Ratio ◽  
Coupling Index ◽  
Pulmonary Arterial ◽  
Asd Closure ◽  
The Right ◽  
Postoperative Residual

Abstract Funding Acknowledgements Type of funding sources: None. Background The haemodynamic effect of atrial septal defect (ASD) is a chronic volume overload of the right heart and pulmonary vasculature. Pulmonary overcirculation is generally compensated for by the right ventricular (RV) and pulmonary arterial (PA) reserve. However, in a subset of patients, prolonged pulmonary overcirculation insidiously induces obstructive pulmonary vasculopathy, which results in postoperative residual pulmonary arterial hypertension (PAH) after ASD closure. Postoperative PAH is a major concern because it is closely associated with poor outcomes and impaired quality of life. However, to date, no clinically robust predictors of postoperative residual PAH have been clearly identified. Purpose This study sought to assess the haemodynamic characteristics of ASD patients in terms of mechano-energetic parameters and to identify the predictors of postoperative residual PAH in these patients. Methods A total of 120 ASD patients (age: 58 ± 17 years) and 46 normal controls were recruited. As previously reported, the simplified RV contraction pressure index (sRVCPI) was calculated as an index of RV external work by multiplying the tricuspid annular plane systolic excursion (TAPSE) by the pressure gradient between the RV and right atrium. RV- PA coupling was evaluated using TAPSE divided by PA systolic pressure as an index of the RV length-force relationship. These parameters were measured both at baseline and 6 months after ASD closure. Results As expected, baseline sRVCPI was significantly greater in patients with ASD than in controls (775 ± 298 vs. 335 ± 180 mm Hg • mm, P < 0.01), which indicated significant "RV overwork". As a result, RV-PA coupling in ASD patients was significantly impaired compared to that in controls (0.9 ± 0.8 vs. 3.5 ± 1.7 mm/mm Hg, P < 0.01). All 120 ASD patients underwent transcatheter or surgical shunt closure; 15 of them had residual PAH after closure. After 6 months, RV-PA coupling index significantly improved in patients without residual PAH, from 0.96 ± 0.81 to 1.27 ± 1.24 mm/mm Hg (P = 0.02). Furthermore, RV load was markedly reduced, with sRVCPI falling from 691 ± 258 to 434 ± 217 mm Hg • mm, P < 0.01). However, in patients with residual PAH, RV-PA coupling index deteriorated from 0.64 ± 0.23 to 0.53 ± 0.12 mm/mm Hg (P < 0.01). As a result, RV overload was not significantly relieved (sRVCPI; from 971 ± 382 to 783 ± 166 mm Hg • mm, P = 0.22). In a multivariate analysis, baseline pulmonary vascular resistance (hazard ratio 1.009; P < 0.01) and preoperative sRVPCI (hazard ratio 1.003; P < 0.01) revealed to be independent predictors of residual PAH. Conclusion In terms of mechano-energetic function, preoperative "RV overwork" can be used as a robust predictor of an impaired RV-PA relationship in ASD patients. Moreover, periodic assessment of sRVPCI may contribute to the better management for patients with unrepaired ASD. Abstract Figure.

scholarly journals RONC-26. A CASE OF RADIATION NECROSIS OF THE CEREBELLUM 16 YEARS AFTER CHEMORADIOTHERAPY FOR MEDULLOBLASTOMA

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii460-iii460
Author(s):  
Mayuko Miyata ◽  
Masahiro Nonaka ◽  
Akio Asai
Keyword(s):  
Radiation Necrosis ◽  
Tumor Resection ◽  
Pathological Examination ◽  
Secondary Cancer ◽  
Brain Necrosis ◽  
Cerebellar Medulloblastoma ◽  
Cerebellar Peduncle ◽  
The Right ◽  
The Brain

Abstract BACKGROUND If new lesions are observed during follow-up of the malignant tumor after treatment, it is difficult to distinguish whether the tumor is a recurrent lesion, secondary cancer, or radiation necrosis of the brain. We have encountered a patient with symptomatic radiation necrosis of the cerebellum 16 years after treatment of medulloblastoma. CASE PRESENTATION: A 24-year-old man who had received a tumor resection and chemoradiotherapy for cerebellar medulloblastoma at the age of 8 presented with dizziness. For the past 16 years, there was no recurrence of the tumor. He subsequently underwent MRI scan, and T1-Gd image showed enhanced lesion in the right cerebellar peduncle. Cerebrospinal fluid cytology analysis was negative for tumor. We suspected tumor reccurence or secondary cancer, and performed lesion biopsy. The result of the pathological examination was radiation necrosis of the cerebellum. DISCUSSION: The interval of radiation necrosis of the brain and radiotherapy can vary from months to more than 10 years. So, whenever a new lesion is identified, radiation brain necrosis must be envisioned. According to guidelines in Japan, there is no absolute examination for discriminating tumor recurrence from radiation brain necrosis and diagnosis by biopsy may be required. CONCLUSION We experienced a case of symptomatic radiation necrosis of the cerebellum 16 years after treatment. In patients showing new lesion after long periods of time, the possibility of radiation necrosis to be considered.

Cobra head deformity of atrial septal occluder: blessing in disguise

2020 ◽  
pp. 1-2
Author(s):  
Uma Devi Karuru ◽  
Saurabh Kumar Gupta
Keyword(s):  
Atrial Septal Defect ◽  
Left Atrial ◽  
Septal Defect ◽  
Atrial Septum ◽  
Right Atrial ◽  
Septal Occluder Device ◽  
Occluder Device ◽  
The Right

Abstract It is not uncommon to have prolapse of the atrial septal occluder device despite accurate measurement of atrial septal defect and an appropriately chosen device. This is particularly a problem in cases with large atrial septal defect with absent aortic rim. Various techniques have been described for successful implantation of atrial septal occluder in such a scenario. The essence of all these techniques is to prevent prolapse of the left atrial disc through the defect while the right atrial disc is being deployed. In this brief report, we illustrate the use of cobra head deformity of the device to successfully deploy the device across the atrial septum.

scholarly journals Double-Outlet Right Ventricle in a Chianina Calf

Animals ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 318
Author(s):  
Domenico Caivano ◽  
Maria Chiara Marchesi ◽  
Piero Boni ◽  
Noemi Venanzi ◽  
Giovanni Angeli ◽  
...  
Keyword(s):  
Right Ventricle ◽  
Septal Defect ◽  
Heart Defects ◽  
Double Outlet Right Ventricle ◽  
Cardiac Malformation ◽  
Septal Defects ◽  
Congenital Cardiac Malformation ◽  
The Right ◽  
Similar Complex ◽  
Echocardiographic Findings

Congenital heart defects have been occasionally reported in cattle and ventricular septal defect represents the most frequently encountered anomaly. The double-outlet right ventricle is a rare congenital ventriculoarterial malformation reported only in certain cattle breeds. We describe this rare and complex congenital cardiac malformation observed in a 10-day-old male Chianina calf. Clinical examination showed tachycardia, tachypnea, jugular pulses, cyanotic mucous membranes and a right apical systolic murmur. Transthoracic echocardiography revealed severe dilation of the right-sided cardiac chambers with a markedly hypoplastic left ventricle. Both aorta and pulmonary artery leaving the right ventricle in parallel alignment with the tricuspid valve were suggestive of a dual-outlet right ventricle. Interventricular and interatrial septal defects were also visualized. Post-mortem examination confirmed the echocardiographic findings. To the authors’ knowledge, a similar complex congenital cardiac malformation has not been reported in calves of the Chianina breed to date.

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