Anatomical Abnormalities Research Articles

A Rare Case of Bilateral Retroperitoneal Ovaries: A Case Report and Review of the Literature

Introduction: Retroperitoneal gynecologic tumors and cysts are rare. They are often asymptomatic or present similarly to their intraperitoneal counterpart with vague abdominal discomfort and distention. Our literature review revealed that many retroperitoneal cysts are found intraoperatively due to their benign predominance consistent with their ultrasound findings. The rarity of retroperitoneal gynecologic tumors and cysts creates uncertainty regarding the best practice management for general gynecologists caught off guard by their location when found intraoperatively. Rarer still are retroperitoneal ovaries. There are few cases of retroperitoneal ovary displacement in the literature, most often associated with female neonatal incarcerated inguinal hernia repair surgery. We found one case report involving an intraoperatively found retroperitoneal ovarian cystadenofibroma in a patient with a hernia repair performed in infancy. To our knowledge, there are no bilateral retroperitoneal ovaries described in the literature. Objective: To report a rare case of bilateral retroperitoneal ovaries in an 11 year old female. Methods: Case report. Results: We present an 11-year-old female with a past medical history of Dandy-Walker malformation and hydrocephalus status post ventriculoperitoneal (VP) shunt with six laparoscopic VP shunt revisions who endorsed hirsutism and irregular, heavy, and painful menstrual periods. Her family history is significant for polycystic ovarian syndrome (PCOS), endometriosis, and Lynch syndrome. Physical exam revealed mild abdominal distention and lower abdominal tenderness. She had an elevated estradiol, luteinizing hormone (LH), and total and free testosterone. Normally, an elevated estradiol causes a negative feedback response that results in a low LH. Due to these abnormal results, a pelvic ultrasound was ordered to rule out a potential estrogen secreting ovarian tumor. Ultrasound revealed a large anechoic structure in the left adnexa not definitively separated from the ovary measuring 13.0 x 7.7 x 10.7 cm. Radiologic differential diagnosis included large simple cyst, hemorrhagic cyst, and serous neoplasm. A referral to an adolescent gynecologist was made where the patient presented five months later with 25-pound weight gain, constipation, and a hard belly. Repeat ultrasound was consistent with a left ovarian simple cyst with an increased size measuring 16.78 x 12.58 x 8.66 cm as well as a new finding consistent with a right ovarian simple cyst measuring 4.96 x 4.48 x 3.61 cm. Due to her history of severe abdominal adhesions secondary to multiple laparoscopic VP shunt revisions, likely endometriosis, and large ovarian cyst, she was referred to a gynecologic oncologist where she was consented for robotic assisted bilateral ovarian cystectomy and lysis of adhesions. In the operating room, extensive pelvic adhesions were lysed to reveal bilateral retroperitoneal ovaries. The right cyst was drained of clear fluid, revealing no internal complexity, and was completely excised. Persistent pelvic adhesions and cyst size prolonged the time required to excise the left ovarian cyst wall. Once open, papillary excrescences were seen inside the cyst raising concern for a borderline ovarian tumor. The decision was made to remove the cyst wall in its entirety regardless of increased risk of ovarian function compromise. Restoration of normal anatomy was not attainable, and her bilateral ovaries remained embedded in the side walls and superior to the iliac vessels. Pathology revealed a benign 8 cm right paratubal cyst and a benign 18 cm left serous cystadenoma with papillary excrescences. Conclusions: Pelvic anatomy can be greatly distorted secondary to prior abdominal surgeries or certain pathologies including endometriosis and congenital abnormalities. Ultrasound cannot easily discriminate between intraperitoneal and retroperitoneal ovarian cysts but is often the only preoperative imaging obtained prior to cystectomy. Thus, many retroperitoneal cysts are found intraoperatively resulting in diagnostic and therapeutic challenges. Therefore, general gynecologists must be aware of risk factors associated with abnormal pelvic anatomy and prepared to request intraoperative consultation if needed to ensure optimized patient care and safety.

A Rare Case of Bilateral Retroperitoneal Ovaries: A Case Report and Review of the Literature

Introduction: Retroperitoneal gynecologic tumors and cysts are rare. They are often asymptomatic or present similarly to their intraperitoneal counterpart with vague abdominal discomfort and distention. Our literature review revealed that many retroperitoneal cysts are found intraoperatively due to their benign predominance consistent with their ultrasound findings. The rarity of retroperitoneal gynecologic tumors and cysts creates uncertainty regarding the best practice management for general gynecologists caught off guard by their location when found intraoperatively. Rarer still are retroperitoneal ovaries. There are few cases of retroperitoneal ovary displacement in the literature, most often associated with female neonatal incarcerated inguinal hernia repair surgery. We found one case report involving an intraoperatively found retroperitoneal ovarian cystadenofibroma in a patient with a hernia repair performed in infancy. To our knowledge, there are no bilateral retroperitoneal ovaries described in the literature. Objective: To report a rare case of bilateral retroperitoneal ovaries in an 11 year old female. Methods: Case report. Results: We present an 11-year-old female with a past medical history of Dandy-Walker malformation and hydrocephalus status post ventriculoperitoneal (VP) shunt with six laparoscopic VP shunt revisions who endorsed hirsutism and irregular, heavy, and painful menstrual periods. Her family history is significant for polycystic ovarian syndrome (PCOS), endometriosis, and Lynch syndrome. Physical exam revealed mild abdominal distention and lower abdominal tenderness. She had an elevated estradiol, luteinizing hormone (LH), and total and free testosterone. Normally, an elevated estradiol causes a negative feedback response that results in a low LH. Due to these abnormal results, a pelvic ultrasound was ordered to rule out a potential estrogen secreting ovarian tumor. Ultrasound revealed a large anechoic structure in the left adnexa not definitively separated from the ovary measuring 13.0 x 7.7 x 10.7 cm. Radiologic differential diagnosis included large simple cyst, hemorrhagic cyst, and serous neoplasm. A referral to an adolescent gynecologist was made where the patient presented five months later with 25-pound weight gain, constipation, and a hard belly. Repeat ultrasound was consistent with a left ovarian simple cyst with an increased size measuring 16.78 x 12.58 x 8.66 cm as well as a new finding consistent with a right ovarian simple cyst measuring 4.96 x 4.48 x 3.61 cm. Due to her history of severe abdominal adhesions secondary to multiple laparoscopic VP shunt revisions, likely endometriosis, and large ovarian cyst, she was referred to a gynecologic oncologist where she was consented for robotic assisted bilateral ovarian cystectomy and lysis of adhesions. In the operating room, extensive pelvic adhesions were lysed to reveal bilateral retroperitoneal ovaries. The right cyst was drained of clear fluid, revealing no internal complexity, and was completely excised. Persistent pelvic adhesions and cyst size prolonged the time required to excise the left ovarian cyst wall. Once open, papillary excrescences were seen inside the cyst raising concern for a borderline ovarian tumor. The decision was made to remove the cyst wall in its entirety regardless of increased risk of ovarian function compromise. Restoration of normal anatomy was not attainable, and her bilateral ovaries remained embedded in the side walls and superior to the iliac vessels. Pathology revealed a benign 8 cm right paratubal cyst and a benign 18 cm left serous cystadenoma with papillary excrescences. Conclusions: Pelvic anatomy can be greatly distorted secondary to prior abdominal surgeries or certain pathologies including endometriosis and congenital abnormalities. Ultrasound cannot easily discriminate between intraperitoneal and retroperitoneal ovarian cysts but is often the only preoperative imaging obtained prior to cystectomy. Thus, many retroperitoneal cysts are found intraoperatively resulting in diagnostic and therapeutic challenges. Therefore, general gynecologists must be aware of risk factors associated with abnormal pelvic anatomy and prepared to request intraoperative consultation if needed to ensure optimized patient care and safety.

Accessory Right and Left Hepatic Arteries in a 69 year-old White Female Donor with a Duplicated Inferior Vena Cava: Anatomical and Surgical Significance

Hepatic artery variations are relatively common findings in patients with an array of findings that were categorized and quantified in the Michels classification system. Findings of an accessory right and left hepatic artery were found in a 69 year-old white female donor with a duplicated inferior vena cava during routine anatomical dissection (Michels type 7 variation). Research supports that the hepatic artery variations can be due to either failure of regression of ventral anastomosis between the dual aortas or failed regression of fetal hepatic blood flow. Given the concurrent development of the IVC and aortic branches during the fourth to seventh week of gestation, this patient’s duplicated IVC and abnormal CT and SMA anatomy are likely related, both a result of failure of regression of fetal vasculature. There are no known associated comorbidities with this vascular variation however it is clinically significant when undergoing any hepatobiliary surgical procedures and suggests an increased risk for hepatic ischemic events.

Primigravida with Fetal Malpresentation and Bicornuate Uterus: A Case Report

Introduction: Malpresentation of the fetal head in left oblique presentation is a rare obstetric complication but has the potential to cause birth difficulties. This condition can be worsened by anatomical abnormalities of the uterus such as a bicornuate uterus. Case presentation: An 18-year-old primigravida presented with complaints of labor and premature rupture of membranes. Examination revealed malpresentation of the fetal head in left oblique presentation, and further ultrasound examination revealed a possible bicornuate uterus. Conclusion: Careful labor management and appropriate surgical intervention, in this case, an emergency caesarean section, resulted in the birth of a healthy baby girl. This case emphasizes the importance of early diagnosis and a multidisciplinary approach in treating complex cases of fetal malpresentation.

Prevalence of small intestinal bacterial overgrowth in intestinal failure syndrome: A systematic review and meta-analysis.

Patients with intestinal failure (IF) have abnormal intestinal anatomy, secretion, and dysmotility, which impairs intestinal homeostatic mechanisms and may lead to small intestinal bacterial overgrowth (SIBO). We conducted a systematic review and meta-analysis to determine the prevalence of SIBO in patients with IF and to identify risk factors for SIBO. MEDLINE (PubMed) and Embase electronic databases were searched from inception to December 2023 for studies that reported the prevalence of SIBO in IF. The prevalence rates, odds ratio (OR), and 95% confidence intervals of SIBO in IF and the risk factors for SIBO in IF were calculated using random effects model. Final dataset included nine studies reporting on 407 patients with IF. The prevalence of SIBO in IF was 57.5% (95% CI 44.6-69.4), with substantial heterogeneity in this analysis (I2=80.9, P=0.0001). SIBO prevalence was sixfold higher in patients with IF who received parenteral nutrition (PN) compared with IF patients not on PN (OR=6.0, 95% CI 3.0-11.9, P=0.0001). Overall, the prevalence of SIBO in patients with IF using PPI/acid-suppressing agents (72.0%, 95% CI 57.5-83.8) was numerically higher compared with IF patients not using these agents (47.6%, 95% CI 25.7-70.2). This systematic review and meta-analysis suggests that there is an increased risk of SIBO in patients with IF and that PN, and potentially, the use of PPI/acid-suppressing agents is risk factors for SIBO development in patients with IF. However, the quality of evidence is low and can be attributed to lack of case-control studies and clinical heterogeneity seen in the studies.

Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes.

NAA10-related (Ogden Syndrome) and NAA15-related neurodevelopmental syndromes present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. While there is much data on the clinical manifestations of these conditions, there are few radiologic reports describing the neuroanatomical abnormalities present on imaging. Our goal was to provide neuroimaging analyses for a subset of probands with NAA10- and NAA15-related neurodevelopmental symptoms and assess severity, common radiologic anomalies, and changes over time to better understand the pathophysiology of these disease processes. Neuroimaging studies from 26 probands (18 with pathogenic variants in NAA10, 8 with pathogenic variants in NAA15) were collected and analyzed. Size of the cerebrum, brainstem, and cerebellum, as well as myelination, brain malformations, globus pallidus hyperintensity, brain lesions, 4th ventricle size, tegmentovermian angle, cisterna magna size, pituitary size, olfactory tract, palate arch, and choroid plexus abnormalities were analyzed. In depth medical histories were also collected on all probands, including genetic testing results and social, cognitive, and developmental history. The Vineland 3 Adaptive Behavior Scale was also administered to the parents to assess functional status of the probands. On average, individuals with Ogden Syndrome had 5.7 anatomical abnormalities (standard deviation (SD) = 3.0), whereas those with NAA15 related neurodevelopmental syndrome had 2.8 (SD = 2.3) (p = .02). Probands who had more anatomical abnormalities tended to score worse on Vineland assessments, suggesting a possible correlation between the two. Structural-functional anatomic differences seen were preserved such that individuals with greater defects on, for example, motor regions of their scans tested worse on motor portions of the Vineland. Probands followed longitudinally demonstrated several changes between scans, most commonly in the cerebellum, brainstem, and degree of myelination. Such changes were only observed for probands with NAA10 variants in our cohort. Despite clinical imaging being reported as being predominantly "normal" during routine clinical care, this analysis of a cohort of patients with NAA10-related (Ogden Syndrome) and NAA15-related neurodevelopmental syndrome by one neuroradiologist has established a range of subtle abnormalities. We hope these findings guide future research and diagnostic studies for this patient population.

Medical management of anorectal malformations.

Anorectal malformations (ARMs) are congenital anomalies of the anorectum and the genitourinary system that result in a broad spectrum of hindgut anomalies. Despite surgical correction patients continue to have late postoperative genitourinary and colorectal dysfunction that have significant impact on quality of life. This paper will review the current evidence and discuss the evaluation and management of postoperative patients with ARMs who present with persistent defecation disorder. A literature search was conducted using PubMed/MEDLINE/EMBASE databases applying the following terms: ARMs, imperforate anus, constipation, faecal incontinence, neurogenic bowel, posterior sagittal anorectoplasty. Patients who present with postoperative defecation disorders require timely diagnostic and surgical evaluation for anatomic abnormalities prior to initiation of bowel management. Goals of management are to avoid constipation in young children, achieve faecal continence in early childhood and facilitate independence in older children and adolescents. Treatment options vary from high dose stimulant laxatives to high-volume retrograde and antegrade enemas that facilitate mechanical colonic emptying. Appropriate diagnostic work-up and implementation of treatment can decrease long-term morbidity and improve quality of life in postoperative patients with ARMs who presents with defecation disorders.

The Extended Utilization of Bulking Agents in Pediatric Urology.

Traditional surgical management for urinary incontinence and vesicoureteral reflux often requires complex reconstructive surgery and extended hospitalizations. Since the introduction of endoscopic bulking agents in 1973, there has been increasing interest in the use of endoscopic injection (EI) and bulking for the treatment of a variety of pediatric urologic disorders. The purpose of this review is to summarize the most recent literature addressing the use of bulking agents in pediatric urology. The most recent literature has focused primarily on the use of EI of bulking agents at the bladder neck for the treatment of urinary incontinence. Other uses of EI of bulking agents has focused on the treatment of vesicoureteral reflux (VUR) in patients with anatomic abnormalities or treatment of incontinence catheterizable channels. The development of advanced techniques for endoscopic injection along with safe, stable bulking agents has allowed for the treatment of a variety of urologic conditions. This minimally invasive procedure offers an additional tool for the pediatric urologist's armamentarium in the treatment of urinary incontinence and VUR.

FECALOME GEANT A PROPOS D’UNE OBSERVATION ET REVUE DE LA LITTERATURE A L’HOPITAL DONKA

Fecal impaction is a mass of hardened fecal matter impacted primarily in the rectum and sigmoid. The most common sites of fecal impaction are the sigmoid colon and the rectum. We report a case of giant ileocecal fecal impaction causing OIA which was treated surgically. Case report: 25-year-old patient, student, admitted to the department for progressive abdominal pain accompanied by cessation of materials and gases, and abdominal bloating lasting for two (2) weeks. As a history, we noted stubborn constipation and episodes of subocclusion. The clinical examination noted a deterioration in general condition WHO stage I, conjunctival hypocoloration, polypnea at 35 cycles/mm and tachycardia at 100/min. The abdomen was very distended and tympanic, intestinal peristalsis was inaudible. Rectal examination revealed vacuity of the rectal bulb. The diagnosis of OIA/VCP was made; the unprepared abdominal X-ray showed aerocolia; biological examination, normochromic and normocytic anemia at 10g/l. Intraoperatively, we found a giant ileocecal fecal impaction extending from the rectosigmoid hinge to the last ileal loops (50 cm from the ileocecal angle) on dolichomegacolon. (Figure 2) We carried out a sigmoidectomy to extract the fecal impaction which weighed 15 KG (figure 3), using the colostomy according to Hartmann. The operating part addressed to the anapath did not show any particularity. Three (3) months later we restored continuity. The ileal fecal masses were extracted manually. The postoperative course was simple; 16 weeks after the first intervention we restored continuity. Conclusion: Fecal impaction occurs when a large amount of fecal matter is compacted and cannot be evacuated spontaneously. It is significantly common in severe chronic constipation and in other at-risk patients with anatomical or functional anorectal abnormalities. Key words: giant fecal impaction, intestinal obstruction, Donka Hospital.

Long-term results of three-part penile prosthesis implantation with Ectopic reservoir placement in the treatment of erectile dysfunction: is supramuscular tubulation a reliable method?

BackgroundPenile prosthesis implantation is the last resort for refractory erectile dysfunction. Reservoir placement is one of the biggest challenges in inflatable penile prosthesis implant surgery in several cases, especially in patients with abnormal pelvic anatomy. Ectopic reservoir placement with supramuscular approach has many advantages in these cases.ResultsNo complications were encountered except wound site infection in 2 patients which could be controlled with antibiotic treatment. EDITS scores were not statistically different between patients divided into 2-year groups according to follow-up time. Median values of EDITS scores were high in all groups, suggesting that couples had high sexual satisfaction both in the long term and in the short term.ConclusionsWe recommend placement of the supramuscular tube and reservoir through the incision described, especially in patients whose pelvic anatomy has been modified by lower abdominal surgery.

Brachycephalic obstructive airway syndrome: a respiratory review

This article reviews the pathogenesis, diagnosis and therapeutic options for the respiratory aspects of brachycephalic obstructive airway syndrome. Brachycephalic obstructive airway syndrome is a condition estimated to affect around 50% of the brachycephalic dog population, which, over recent decades, has seen a meteoric rise in popularity and ownership. Several primary and secondary respiratory abnormalities that can compromise the respiratory capacity of these patients should be considered. Diagnosis primarily takes the form of clinical examination and the use of an exercise tolerance test, with other diagnostics acting as a useful adjunct in fully detailing the abnormalities present. Treatments are mainly focussed on increasing the amount of space within the upper respiratory tract through removal of various primary and secondary anatomical abnormalities; however, the optimal methods are yet to be identified. While understanding of these breeds' respiratory issues has increased among owners and the veterinary profession, there are still many challenges and unknowns in the management of these patients. It is important veterinary professionals take an active approach to these patients and are able to effectively communicate which are affected in order to maximise the welfare of this cohort and uphold their ethical responsibilities to them.

Luschka’s tubercle and snapping scapula syndrome: an anatomical and clinical discourse

Snapping Scapula Syndrome (SSS) is an uncommon orthopaedic disorder characterised by audible crepitations and disrupted shoulder kinematics due to pathological interactions within the tissues between the scapula and ribcage. One rare cause of SSS is the presence of Luschka’s Tubercle, a bony prominence located on the costal surface of the superior angle of the scapula. Diagnosis of SSS due to Luschka’s Tubercle (LT) can be challenging, often eluding conventional imaging, potentially leading to mismanagement and worsening symptoms. This case series underscores the significance of LT detection, explores its role in SSS, and discusses treatment options. This series presents five patients with posterior shoulder pain and a palpable click indicative of SSS over a six-month period. Three of these patients did not exhibit Luschka’s Tubercle (LT) on 3D CT scans, while the remaining two patients had LT detected on the imaging. Arthroscopic resection successfully resolved symptoms in one of the two patients with LT. SSS is characterised by scapular snapping during movement, often associated with anatomical abnormalities such as Luschka’s Tubercle. A comprehensive approach to diagnosis and management, including imaging, conservative measures, and, when necessary, surgery, is crucial for alleviating symptoms and enhancing shoulder function in affected individuals.

Trochlea Dysplasia as the Major Anatomic Risk Factors for Patellofemoral Joint Instability: An Infographic as a Visual Learning Tool.

Patellofemoral instability (PFI) is a common condition in children and adolescents, ranging from mild discomfort and mal-tracking to lateral patellar dislocation [1]. A number of anatomical risk factors have been described in the literature, such as trochlear dysplasia, patella alta, excessive tibial tuberosity to trochlear groove (TT-TG) distance, patellar tilt and soft tissue alterations [2]. Among them, TD has been identified as the main anatomical risk factor with the strongest association with PFI [1, 2]. In the study by Dejour et al. [2] radiographically observed TD was identified in 96% of patients with a history of patellofemoral dislocation [1, 2]. Patients with Dejour Type D dysplasia are characterized by a prominent and convex lateral facet with a vertical connection to a hypoplastic medial facet (Figure 1), which provides inadequate tracking of the patella in the trochlea during flexion leading to patella subluxation [2]. Non-operative treatment of lateral patellar dislocation presents a rate of re-dislocation up to 70% within 24 months of the first episode [3]. Sulcus deepening trochleoplasty is indicated for Type B and D dysplasia, in order to improve patella tracking, reduce the rate of re-dislocation and achieve good functional outcomes [2, 4]. Trochlea dysplasia is defined as a shallow or flattened groove with decreased resistance to lateral patellar translation. TD can be assessed on computed tomography (CT) and magnetic resonance imaging (MRI) with the use of overlapping axial images and are able to show perfectly the global shape of the femoral trochlea [2]. The thresholds for identifying trochlear dysplasia are established based on the sulcus angle ≥ 145°, medial/lateral trochlea facet asymmetry < 40%, trochlear depth < 3 mm and lateral trochlear inclination ≤ 11° and therefore it can be used in young adolescents [4, 5]. A deep knowledge of anatomic variations and abnormalities of the patellofemoral joint, which may predispose to PFI, is crucial in order to choose the appropriate treatment for each patient.

Scintigraphy of Gastrointestinal Motility: Best Practices in Assessment of Gastric and Bowel Transit in Adults.

Various radiologic examinations and other diagnostic tools exist for evaluating gastrointestinal diseases. When symptoms of gastrointestinal disease persist and no underlying anatomic or structural abnormality is identified, the diagnosis of functional gastrointestinal disorder is frequently applied. Given its physiologic and quantitative nature, scintigraphy often plays a central role in the diagnosis and treatment of patients with suspected functional gastrointestinal disorder. Most frequently, after functional gallbladder disease is excluded, gastric emptying scintigraphy (GES) is considered the next step in evaluating patients with suspected gastric motility disorder who present with upper gastrointestinal symptoms such as dyspepsia or bloating. GES is the standard modality for detecting delayed gastric emptying (gastroparesis) and the less commonly encountered clinical entity, gastric dumping syndrome. Additionally, GES can be used to assess abnormalities of intragastric distribution, suggesting specific disorders such as impaired fundal accommodation or antral dysfunction, as well as to evaluate gastric emptying of liquid. More recently, scintigraphic examinations for evaluating small bowel and large bowel transit have been developed and validated for routine diagnostic use. These can be performed individually or as part of a comprehensive whole-gut transit evaluation. Such scintigraphic examinations are of particular importance because clinical assessment of suspected functional gastrointestinal disorder frequently fails to accurately localize the site of disease, and those patients may have motility disorders involving multiple portions of the gastrointestinal tract. The authors comprehensively review the current practice of gastrointestinal transit scintigraphy, with diseases and best imaging practices illustrated by means of case review. ©RSNA, 2024 See the invited commentary by Maurer and Parkman in this issue.

Pregnancy complicated by severe osteogenesis imperfecta poses a challenge for the anaesthetist: A case report.

Pregnant women with severe osteogenesis imperfecta (OI) are uncommon, and there are limited data regarding anaesthesia for caesarean section in these high-risk individuals. The presence of anatomical and physiological abnormalities can pose technical challenges for the anaesthetist. This report describes the successful implementation of epidural anaesthesia in a parturient with severe OI. To our knowledge, this is the first documented use of ultrasound-assisted neuraxial anaesthesia and wrist blood pressure monitoring in such patients undergoing caesarean section. Understanding the pathophysiological changes associated with OI is crucial for ensuring safe administration of anaesthesia to these women.

Prevalence, Severity, and Treatment of Obstructive Sleep Apnea in Children with Down Syndrome in Qatar.

Patients with Down syndrome (DS) are at risk for sleep disorder breathing (SDB) due to their abnormal craniofacial anatomy, hypotonia, and propensity for obesity. The prevalence and severity of SDB in this population vary between different cohorts due to the multifactorial nature of these patients and the different diagnostic criteria used. We aim to report the prevalence and severity of SDB in the DS population in Qatar. This study is a retrospective review of all patients with genetically confirmed DS who completed a diagnostic polysomnography (PSG) study at Sidra Medicine in Doha, Qatar, which is the only pediatric sleep center in the country, between September 2019 and July 2022. Clinical and PSG data were collected from the patients' electronic medical records. Central and obstructive events were scored according to the American Academy of Sleep Medicine (AASM) criteria. Obstructive sleep apnea (OSA) diagnosis was made based on apnea-hypopnea index (AHI) and defined as AHI>1.5 events/hour.OSA was considered mild if AHI was ≥ 1.5 but < 5, moderate if AHI was ≥ 5 but < 10, and severe if AHI was ≥ 10 events/hour. Diagnosis with central apnea was considered if the central apnea index was > 5 events/hour. Hypoventilation was considered present if end-tidal/transcutaneous carbon dioxide gas was more than 50 mmHg for more than 25% of total sleep time.Multiple regression analysis was performed to evaluate predictors of high AHI and rapid eye movement (REM)-AHI. A total of 80 patients (49 males and 31 females) were included. Median (range) age was 7.3 years (0.9, 21). The mean (range) BMI z-score was 1.7 (-1.3, 4.3). Sixty-five patients were diagnosed with OSA, with a prevalence rate of 81%. OSA was mild in 25 (38.5%) patients, moderate in 15 (23.1%) patients, and severe in 25 (38.5%) patients. Only one patient was diagnosed with central apnea and five patients (6.9%) with alveolar hypoventilation. Multiple regression analysis showed BMI (P = 0.007) and snoring/apnea symptoms (P=0.023) to be predictive of high AHI. No correlation was found between the same variables and REM-AHI. Treatments used for OSA included anti-inflammatory medications in 37 (46%) patients, tonsillectomy/adenoidectomy in 13 (16.5%) patients, and positive airway pressure support in 10 (15%) patients. Our patient population with DS had a high prevalence of OSA comparable to other reported cohorts. High BMI and symptoms of snoring are predictive of OSA.

Review of Urinary Tract Infections and Pyelonephritis

Urinary tract infections (UTIs) are serious bacterial infections affecting children of all ages. An understanding of the methods of urine collection is important to prevent the contamination of urine specimens and to interpret results. The diagnosis of a UTI requires appropriate interpretation of both urinalysis and urine culture results because testing must indicate evidence of inflammation and the presence of bacteria. Rapid treatment of UTIs is imperative to prevent acute decompensation and systemic illness. Empiric antibiotics should be narrowed as soon as possible to tailor antibiotic treatment and limit antibiotic overuse. Imaging with a renal ultrasound scan is recommended for all infants with first febrile UTIs rather than a voiding cystourethrogram. An additional goal of UTI treatment is to prevent renal scarring, which can lead to lifelong health consequences. Children with anatomic abnormalities of the urinary tract and those who have recurrent UTIs are at increased risk of renal scarring. [ Pediatr Ann . 2024;53(6):e217–e222.]

Surgical Outcomes of Revision Orbital Reconstruction in Patients With Inadequate Primary Orbital Fracture Repair.

This study aimed to investigate the clinical characteristics of patients with complications following inadequate primary orbital fracture repair and to evaluate surgical outcomes of secondary revision orbital reconstruction. The authors retrospectively reviewed data from 41 patients who underwent revision orbital reconstruction by a single surgeon following complications from primary orbital fracture repair performed elsewhere. Clinical characteristics, including enophthalmos, exophthalmos, diplopia, ocular motility limitation, epiphora, infraorbital hypoesthesia, infection, eyelid malposition, lagophthalmos, hypoglobus, and compressive optic neuropathy, were assessed. Surgical outcomes of revision surgery were evaluated to determine improvements in clinical deficits and postoperative patient satisfaction. The most common postoperative complications of primary orbital fracture repair were enophthalmos (n=20/41) and diplopia (n=20/41). The mean time between primary and revision surgeries was 67.2 months (range: 1-276mo). Revision surgery significantly improved enophthalmos, diplopia (Hess area ratio), epiphora (Munk score), periorbital pain, and exophthalmos ( P =0.003, P =0.001, P <0.001, P <0.001, and P =0.007, respectively) compared to the pre-revision state. In addition, 6 patients experienced improved infraorbital hypoesthesia. Among the 41 patients, 23 were very satisfied, 17 were satisfied, and 1 was neutral after revision orbital reconstruction. Our study highlights the positive impact of revision orbital reconstruction in addressing complications from inadequate primary orbital fracture repair. Surgeons should consider revision surgery to address clinical deficits following prior surgery, especially when anatomic abnormalities are evident in imaging studies, regardless of the time lapse since the initial surgery or concerns about tissue fibrosis and fat atrophy.

Factors Associated with Defecation Satisfaction among Japanese Adults with Chronic Constipation.

Background: Constipation causes substantial morbidity worldwide. Methods: This survey assessed constipation-related factors in Japan using the Japanese version of the Irritable Bowel Syndrome Quality of Life (IBS-QOL-J) instrument. We also examined the relationship among laxative type, Bristol Stool Form Scale (BSFS) scores, and treatment cost. Finally, we examined differences in satisfaction scores according to laxative type, treatment type, treatment cost, and BSFS score. Results: IBS-QOL-J was higher among those taking salt and/or irritation laxatives. Those paying >JPY 5000 (USD 50.00) had the lowest IBS-QOL-J. IBS-QOL-J was significantly lower among those with a BSFS score of 1 or 2 (severe constipation). Conclusions: This study's findings suggest that a variety of factors, including treatment type and cost, are associated with defecation satisfaction. Those who had hard stools, used multiple laxatives, or spent more on treatment were less satisfied. Future strategies should target therapies that do not require multiple laxatives with lower treatment costs. Adequate defecation with a small number of appropriate laxatives at minimal cost appears to improve defecation satisfaction. It is desirable to identify appropriate laxatives and improve dietary habits and exercise routines. It is also necessary to stop blindly increasing laxative usage and properly diagnose constipation disorders such as anatomical abnormalities other than functional constipation.

Perioperative echocardiography in minimally invasive surgery for hypertrophic obstructive cardiomyopathy.

Hypertrophic obstructive cardiomyopathy (HOCM) is clinically symptomatic and prone to malignant arrhythmias and sudden cardiac death (SCD). Currently, an effective treatment is surgical resection of the hypertrophic ventricular septum to relieve the left ventricular outflow tract (LVOT) obstruction and mitral insufficiency. Our center performs an innovative, minimally invasive right infra-axillary thoracotomy for transaortic septal myectomy. Minimally invasive procedures rely more on perioperative transesophageal echocardiography (TEE). This study aimed to explore the use of echocardiography during the perioperative period of surgical intervention for HOCM. Between August 2021 and April 2022, 27 patients with HOCM underwent cardiac surgery at our hospital. Minimally invasive transaortic septal resection (Morrow myectomy) was performed from the right axilla. The extent of myectomy and need for mitral valve repair were based on perioperative TEE assessment and surgical findings. The demographic parameters and clinical data of patients were recorded. The cardiopulmonary bypass time, aortic cross-clamp, and mechanical ventilation times were calculated. TEE was used to assess ventricular wall thickening and anatomical abnormalities of mitral regurgitation, assist in intravenous catheterization, and assess the postoperative gradients of the LVOT. Among the 27 patients with HOCM who underwent transaortic septal myectomy by minimally invasive right infra-axillary thoracotomy, 16 had LVOT obstruction, 2 had mid-LV obstruction, and 9 had both LVOT and mid-LV involvement. TEE provides information about the fine structure of the LV cavity and the etiology of the obstruction. In all cases, LVOT obstruction and mitral valve systolic anterior motion were resolved postoperatively, and the degree of mitral regurgitation was significantly reduced. Perioperative echocardiography provides valuable information regarding the complex etiology of LVOT obstruction during minimally invasive right infra-axillary thoracotomy for transaortic septal myectomy. It helps determine the extent of septal resection and assess the need for concomitant mitral valve repair.