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Frontiers in Genetics 2020Notch (Notch1 through 4) are transmembrane receptors that determine cell differentiation and function, and are activated following interactions with ligands of the... (Review)
Review
Notch (Notch1 through 4) are transmembrane receptors that determine cell differentiation and function, and are activated following interactions with ligands of the Jagged and Delta-like families. Notch has been established as a signaling pathway that plays a critical role in the differentiation and function of cells of the osteoblast and osteoclast lineages as well as in skeletal development and bone remodeling. Pathogenic variants of Notch receptors and their ligands are associated with a variety of genetic disorders presenting with significant craniofacial and skeletal manifestations. Lateral Meningocele Syndrome (LMS) is a rare genetic disorder characterized by neurological manifestations, meningoceles, skeletal developmental abnormalities and bone loss. LMS is associated with NOTCH3 gain-of-function pathogenic variants. Experimental mouse models of LMS revealed that the bone loss is secondary to increased osteoclastogenesis due to enhanced expression of receptor activator of nuclear factor kappa B ligand by cells of the osteoblast lineage. There are no effective therapies for LMS. Antisense oligonucleotides targeting and antibodies that prevent the activation of NOTCH3 are being tested in preclinical models of the disease. In conclusion, LMS is a serious genetic disorder associated with NOTCH3 pathogenic variants. Novel experimental models have offered insight on mechanisms responsible and ways to correct the disease.
PubMed: 33519922
DOI: 10.3389/fgene.2020.620334 -
Surgical Neurology International 2022The authors describe clinical and imaging findings, surgical technique, and outcomes in myelocystocele.
BACKGROUND
The authors describe clinical and imaging findings, surgical technique, and outcomes in myelocystocele.
METHODS
We describe a surgical procedure performed in six patients, four males and two females, with myelocystocele treated at our hospital. We review the images obtained at the time of diagnosis and after surgery. The patients' age range was 12-56 months and had undergone surgery for terminal myelocystocele between 2015 and 2020. All patients had a large lumbar mass covered with healthy skin and presented spontaneous movements at birth. Two patients presented VACTERL syndrome.
RESULTS
A watertight closure of the soft tissues was performed in all cases. None of the patients presented postsurgical complications, such as cerebrospinal fluid leak or infection. All the patients had undergone excision of the meningocele sacs, the tethering bands were lysed, and the filum was detethered. The mean follow-up period was 34 (12-56) months. A motor deficit was seen in 2 patients (33.3%).
CONCLUSION
Prenatal diagnosis and early corrective surgical intervention are recommended to prevent deterioration in neurological function. VACTERL association is a common condition and should be investigated.
PubMed: 35855164
DOI: 10.25259/SNI_299_2022 -
Archivio Italiano Di Urologia,... Dec 2020To investigate the incidence of diabetic cystopathy in relation to age, gender, type of diabetes, duration of diabetic disease and clinical evidence of peripheral...
OBJECTIVE
To investigate the incidence of diabetic cystopathy in relation to age, gender, type of diabetes, duration of diabetic disease and clinical evidence of peripheral neuropathy and to analyze the physiopathology of the various forms of diabetic cystopathy due to sensory impairment, motor-sensory impairment, motor impairment and hyperreflexia.
MATERIALS AND METHODS
In a retrospective multicenter cohort study the medical records of a cohort of 126 diabetic patients with (128 patients) or without (48 patients) urological symptoms were analyzed. Patients were observed at the Città di Alessandria Clinic of Policlinico di Monza and/or at the outpatient clinic of Alessandria Hospital from June 2018 to June 2020. The study excluded patients with central and/or peripheral neuropathy, spina bifida (mylomeningocele or meningocele) or spina bifida occulta; with persistent urinary infections; in anticholinergic treatment for enteric dysfunctions; in medical treatment for cervical-prostatic-urethral obstruction; with vaginal and/or rectal prolapse of II, III, IV degree; with previous spinal or pelvic surgery including radical prostatectomy, Wertheim hysterectomy or colorectal surgery. All the patients were studied with computed tomography (CT) scan of the urinary tract, voiding cystourethrography (VCUG), uroflowmetry, cystomanometry with intrinsic pressure assessment and compliance evaluation, electromyography (EMG) of the anal sphincter, pressure flow analysis, urethral pressure profile and, when advised, pharmacological tests.
RESULTS
Out of 126 diabetic patients, 48 did not show any signs or symptoms of urine voiding dysfunction; 30 were men and 18 women with an average age of 62.6 years; 20 had type I diabetes and were in treatment with insulin and 28 type II diabetes treated with oral hypoglycemic medication. The remaining 78 patients (48 men and 30 women), with an average age of 64.8 years, presented urological symptoms; 31 had type I diabetes and 47 had II type diabetes.
CONCLUSIONS
Diagnosis of the various forms of diabetic cystopathy and early treatment decreases complications and consequently accesses to outpatient facilities and hospital admissions, resulting in an improved quality of life.
Topics: Cohort Studies; Diabetes Complications; Diabetes Mellitus, Type 1; Diabetes Mellitus, Type 2; Female; Humans; Incidence; Male; Middle Aged; Retrospective Studies; Urinary Bladder Diseases
PubMed: 33348955
DOI: 10.4081/aiua.2020.4.314 -
The Indian Journal of Radiology &... Oct 2021Spinal dysraphisms refer to the congenital abnormalities of the spine and spinal cord due to aberrations in the processes of gastrulation, primary neurulation, and...
Spinal dysraphisms refer to the congenital abnormalities of the spine and spinal cord due to aberrations in the processes of gastrulation, primary neurulation, and secondary neurulation. Embryology of many complex spinal dysraphisms are yet poorly understood and there is no agreeable anatomical-clinicoradiological classification with inclusion of recently documented and complex spinal dysraphisms. The main objective of this study was to review the imaging features of spinal dysraphisms with a better understanding of embryological abnormalities and propose a new classification inclusive of all complex and unusual dysraphisms based on anatomical and clinicoradiological correlation. This was a retrospective single institutional observational study of 391 cases of spinal dysraphism for 10 years in our institution. Of 391 cases included in the study, 204 were males and 187 were females. Also, 123 cases belonged to the 0-6 months age group, 38 cases belonged to the 7-12 months age group, 156 belonged to the 1-5 years age group, 39 cases belonged to the 6-10 years age group, and 35 cases belonged to 10-20 years age group. An anatomical-clinicoradiological analysis of cases yielded a high proportion of cases of spinal lipomas, including lipomyeloceles and lipomyelomeningoceles (31.3%) and posterior myelomeningocele (14.2%). Anterior myelocoele (0.2%), sacral chordoma(0.2%), and intrasacral meningocele (0.2%) formed the least proportion of cases. A new classification was proposed based on the analysis of acquired data. A structured approach in imaging spinal dysraphism is necessary for imaging evaluation in recent years. The proposed new classification based on clinicoradiological correlation and anatomic location is inclusive of unusual and complex dysraphisms.
PubMed: 35136492
DOI: 10.1055/s-0041-1741100 -
Journal of Medical Ultrasound 2024Prenatal diagnosis of myelomeningocele remains challenging for obstetricians, ultrasonographers, and radiologists, although the increased maternal serum... (Review)
Review
Prenatal diagnosis of myelomeningocele remains challenging for obstetricians, ultrasonographers, and radiologists, although the increased maternal serum alpha-fetoprotein level aids in the confirmative diagnosis. Fetal cervical myelomeningocele and meningocele are very rare and unique types of myelomeningocele. Prenatal diagnosis of cervical myelomeningocele and meningocele should include the differential diagnosis and association of many intracranial and spino-skeletal pathogenetic variants and genetic diseases, including subependymal nodular heterotopia and Klippel-Feil syndrome. In this report, a comprehensive review of fetal cervical myelomeningocele with its prenatal diagnosis and long-term outcomes is presented.
PubMed: 38665341
DOI: 10.4103/jmu.jmu_51_23 -
Global Pediatric Health 2023Meningocele is a rare congenital malformation of the central nervous system resulting from a herniation of the meninges containing cerebrospinal fluid through a bony...
Meningocele is a rare congenital malformation of the central nervous system resulting from a herniation of the meninges containing cerebrospinal fluid through a bony defect in the skull. It is part of neural tube closure anomalies. The overall incidence of meningocele is 0.8 to 3 per 10 000 live births; it varies based on geographical location and race, with a predominance of occipital localization. Among diagnostic methods, computed tomography (CT) and magnetic resonance imaging (MRI) remain crucial examinations. Prenatal diagnosis of this malformation primarily relies on ultrasound and screening through maternal serum alpha-fetoprotein (AFP) levels. They typically manifest very early at birth with a highly suggestive radioclinical presentation. Surgical treatment usually allows for a definitive cure. Superinfection and rupture of the meningocele are exceptional, resulting from delayed diagnosis and management. In several developed countries, prevention through genetic counseling and the intake of folic acid during the periconceptional period, along with accurate prenatal diagnosis and the legalization of therapeutic abortion, has led to a decrease in the prevalence of meningoceles. In less developed countries, where there is a delay in diagnosis in exceptional cases, superinfection and rupture may occur. We present the case of an 8-month-old infant with a complicated occipital meningocele with superinfection and rupture.
PubMed: 37846398
DOI: 10.1177/2333794X231204498 -
Cureus Feb 2023The sphenoethmoidal meningocele is a herniation of the meninges through a communication of the skull base with an aeric cavity. It means the presence of an...
The sphenoethmoidal meningocele is a herniation of the meninges through a communication of the skull base with an aeric cavity. It means the presence of an osteomeningeal breach, which is manifested by cerebrospinal rhinorrhea and nasal obstruction. iIs diagnosis is based on a very specific radiological assessment and biology allows the dosage of certain substances to confirm the nature of the cerebrospinal fluid, such as beta-2-transferrin, Once the breach has been found, the endoscopic route exclusively allows the pathology to be treated and the defect to be reconstructed using different materials before the occurrence of serious complications such as meningitis.
PubMed: 36938298
DOI: 10.7759/cureus.35022 -
Children (Basel, Switzerland) Sep 2023Patients with spinal abnormalities often struggle with fecal and/or urinary incontinence (up to 87 and 92%, respectively) and require a collaborative approach to bowel... (Review)
Review
BACKGROUND
Patients with spinal abnormalities often struggle with fecal and/or urinary incontinence (up to 87 and 92%, respectively) and require a collaborative approach to bowel management in conjunction.
METHODS
To define existing approaches and propose state-of-the-art bowel management, a literature search was performed using Medline/PubMed, Google Scholar, Cochrane, and EMBASE databases and focusing on the manuscripts published July 2013 and July 2023.
RESULTS
Patients with spinal anomalies have impaired innervation of the rectum and anal canal, decreasing the success rate from laxatives and rectal enemas. Thus, transanal irrigations and antegrade flushes are widely utilized in this group of patients. Based on spinal MRI, the potential for bowel control in these children depends on age, type, and lesion level. On referral for bowel management, a contrast study is performed to assess colonic motility and evacuation of stool, followed by a series of abdominal X-rays to define colonic emptying and adjust the regimen. The options for management include laxatives, rectal enemas, transanal irrigations, antegrade flushes, and the creation of a stoma. Approximately 22-71% of patients achieve social continence dependent on the type and level of the lesion.
CONCLUSION
Patients with spinal anomalies require a thorough assessment for continence potential and stool burden prior to initiation of bowel management. The optimal treatment option is defined according to the patient's age, anatomy, and mobility. The likelihood of independent bowel regimen administration should be discussed with the patients and their caregivers.
PubMed: 37761519
DOI: 10.3390/children10091558