Myelopathy associated with age-related cervical disc herniation: a retrospective review of magnetic resonance images.

BACKGROUND: Cervical intervertebral disc herniation can lead to myelopathy. Aging is an established variable related to spondylotic myelopathy. Studying this association will help in controlling the increase in spondylotic myelopathy with age. OBJECTIVES: To study the association between cervical disc level, its direction, and the frequency of my-elopathy with age, and to assess the epidemiology of age-related cervical disc herniation and myelopathy. DESIGN: Retrospective review of magnetic resonance (MR) images. SETTING: Tertiary referral hospital. PATIENTS AND METHODS: We studied the MR images of adults patients ( > 18 years of age) referred to our department between 2001 and 2012 for suspected cervical spondylopathy. The direction and severity of herniation and the presence of myelopathy was determined for spinal levels C2 to C7. MAIN OUTCOME MEASURE(S): Relationship between age-related cervical disc herniation and myelopathy. RESULTS: We studied 6584 patient MR images, which included 2402 males (39.1%) and 3737 females (60.9%). The frequency of myelopathy increased with age from 0.6% in patients < 20 years of age, reaching 9.1% in patients > 70 years of age. The most common level affected by myelopathy was C5-C6. In elderly patients ( > 60 years), the C3-C4 level became the predominant level affected by myelopathy. Likewise, the frequency of central disc herniation increased significantly (P < .001) with age at all cervical levels. Furthermore, upper cervical levels showed a higher frequency of central disc herniation than lower cervical levels in the elderly. CONCLUSION: The increased frequency of central disc herniation with age suggest an important, and probably a cause-effect relationship, between herniation and myelopathy. LIMITATIONS: We were unable to access clinical data or electrophysiological studies to correlate with MR image findings.

Double inferior vena cava detected by CT venography and confirmed by magnetic resonance venography: embryogenesis and literature review / Doble vena cava inferior detectada a través de venografía por tomografía computada y confirmada con venografía por resonancia magnética: embriogénesis y revisión de la literatura

A hospital based prospective study was conducted from July 2001 to July 2015 at the Department of Radiology, Jordan University Hospital, Amman, Jordan. During that period, five cases of double inferior vena cava (DIVC) were discovered among a cohort of 7722 patients (3861 men and 3861 women, 49.5±16.9 years, range 16­78 years). Cases were diagnosed by contrast-enhanced Spiral CT venography (CTV) and confirmed by turbo three-dimensional (3D) time-of-flight contrast-enhanced MR venography. The majority of patients 3166 (41 %) were referred for staging and follow-up of malignancy, postoperative complications 1777 (23 %), non-specific abdominal pain 1467 (19 %), preoperative assessment 849 (11 %) and trauma 463 (6 %). Magnetic resonance venography showed higher sensitivity, diagnostic accuracy and noninvasive modality for assessment of IVC map. MRV is a more useful, noninvasive modality for assessment of IVC map. DIVC is a common anomaly, its incidence in our study found to be 0.064 %. The incidence, literature review, embryogenesis, and importance of this anomaly are discussed. In addition, sample figures of relevant cases are provided.

En el Departamento de Radiología del Hospital de la Universidad de Jordania, Amman, Jordania, se llevó a cabo un estudio prospectivo entre el mes de julio de 2001 al mes de julio del 2015. Durante ese período se descubrieron cinco casos de vena cava inferior doble (VCID) en una cohorte de 7722 pacientes (3861 hombres y mujeres 3861, de 49,5 ± 16,9 años, con un rango de edad de 16-78 años). Los casos fueron diagnosticados por medio de venografía por tomografía computada espiral con contraste (TCV) y confirmados por medio de venografía por estudio tridimensional turbo. La mayoría de los pacientes (3166, 41 %) fueron remitidos para estadificación y seguimiento de tumores malignos. Se presentaron complicaciones postoperatorias en 1777 pacientes (23 %), dolor abdominal no especificado en 1467 (19 %), evaluación preoperatoria en 849 (11 %) y traumatismo en 463 pacientes (6 %). La venografía por resonancia magnética (RMV) mostró una mayor sensibilidad, precisión diagnóstica, y resultando no invasiva para la evaluación de la vena cava inferior (VCI). RMV es una modalidad más útil, no invasiva para la evaluación de la VCI. VCID es una anomalía frecuente, encontrándose en nuestro estudio una incidencia de 0,064 %. Además se realizó una revisión de la literatura, la embriogénesis, y la importancia de esta anomalía. También, se proporcionaron cifras de muestras de los casos relevantes.

Isolated Bilateral Lacrimal Gland Agenesis.

A 5-year-old boy presented to the ophthalmology department complaining of absent tearing while crying. Slit-lamp examination showed decreased tear margin film with normal punctae. Orbit magnetic resonance imaging was done and showed bilateral absent lacrimal glands. This is the third case of isolated bilateral lacrimal gland agenesis in the literature. [J Pediatr Ophthalmol Strabismus. 2016;53:e35-e38.].

Sex-specific parameters of ascending aorta, descending aorta and pulmonary trunk by computed tomographic angiography with impact of age, hypertension, smoking and diabetes / Parámetros específicos de la parte ascendente de la aorta, parte descendente de la aorta y tronco pulmonar analizados mediante angiografía por tomografía computadorizada relacionados con el sexo, impacto de la edad, hipertensión, tabaquismo y diabetes

This study aims at establishing whether transverse diameter (TD) and cross sectional-area (CSA) of the ascending aorta (AA), descending aorta (DA) and pulmonary trunk (PT) measured by computerized tomographic angiography (CTA) altered by sex, age, hypertension, smoking and diabetes. CTA examinations of the TD and CSA of the AA, DA and PT of 100 patients aged 49.5±16.9 years (range 16­78 years) selected between January 2009 to May 2011 from those referred to Radiology Department, Jordan University Hospital, Faculty of Medicine, University of Jordan, Amman, Jordan for advanced evaluation. Measurements were made in the axial plane at the upper border of the six thoracic vertebrae. Patients were divided into three age groups. Significance of differences in parameters between age groups was calculated. Assessment ratios were considered. It was found that parameters of the three arteries were significantly larger in men than in women (P= < 0.05) and increased with age. Hypertension increased diameters of AA and DA in both genders (P= 0.001) and of PT in men (P= 0.01). Smoking significantly decreased parameters of PT in men (P= 0.01). Diabetes increased parameters of the three arteries in both genders, significantly increased parameters of PT in men (P= <0.05) and parameters of DA in women (P= <0.05). It is concluded that studied parameters were larger in men and increased with age of our patients. Distinctive differences in measurements appeared in hypertensive, smokers, and diabetic patients.

El objetivo fue determinar si el sexo, edad, hipertensión, tabaquismo y la diabetes alteran el diámetro transversal (DT) y área transversal (AT) de la parte ascendente de la aorta (AA), parte descendente de la aorta (AD) y tronco pulmonar (TP), medidos por angiografía por tomografía computadorizada (ATC). Exámenes de ATC de 100 pacientes de 49,5±16,9 años (rango 16­78 años) fueron seleccionados entre enero del año 2009 a mayo del año 2011 por el Departamento de Radiología, Hospital de la Universidad de Jordania, Facultad de Medicina de la Universidad de Jordania, Amman, Jordania para una evaluación avanzada del DT y AT de la AA, AD y TP. Las mediciones se realizaron en el plano axial en el margen superior de las seis vértebras torácicas. Los pacientes fueron divididos en tres grupos según edad. Se determinó la existencia de significancia estadística de los diferentes parámetros entre los grupos etarios. La evaluación de las razones también fueron consideradas. Se encontró que los parámetros de las tres arterias fueron significativamente mayores en los hombres que en las mujeres (p= <0,05) y que aumentaron con la edad. La hipertensión aumentó los diámetros de la AA y AD en ambos sexos (p= 0,001) y del TP en los hombres (p= 0,01). En fumadores disminuyeron significativamente los parámetros del TP en los hombres (p= 0,01). La diabetes aumentó los parámetros de las tres arterias en ambos sexos. Ademas, aumentaron significativamente los parámetros del TP en los hombres (p= <0,05) y los parámetros de la AD en las mujeres (p = <0,05). Se concluye que los parámetros estudiados eran mayores en los hombres y aumentaron con la edad de nuestros pacientes. Diferencias distintivas en las mediciones aparecieron en hipertensos, fumadores y pacientes diabéticos.

Sporadic Lateral Ventricular Hemangioblastoma presenting with Intraventricular and Subarachnoid Haemorrhage.

Intraventricular hemangioblastoma (HB) is very rare; few cases of intraventricular HB have been reported in the literature, either sporadically or in association with von Hippel-Lindau disease. Furthermore, the incidence of ventricular haemorrhage from HB seems to be uncommon. We report a unique case of sporadic HB of the right lateral ventricle presenting with intratumoural and intraventricular haemorrhage in addition to multifocal intracranial superficial siderosis, indicating the presence of a subarachnoid haemorrhage (SAH) as well. Such a combination has not been reported before. In the future, the detection of an intraventricular mass in association with ventricular haemorrhage, with or without SAH, should include HB as a differential diagnosis, particularly when the imaging appearances are not typical of the more common intraventricular tumours.

Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?

Intrauterine growth retardation (IUGR) is a nonspecific finding that occurs in approximately 0.17% of all live-births. However, IUGR can also be a significant feature of many recognized genetic syndromes including Silver-Russel syndrome (SRS), Three M syndrome (3-M), Dubowitz syndrome, and Mulibrey nanism. Differentiation of 3-M syndrome from autosomal recessive SRS has been difficult because of the phenotypic variability of the latter. Limb length asymmetry is seen in over half of those with autosomal recessive SRS, but not in individuals with 3-M syndrome. Characteristic radiologic findings of 3-M syndrome are not present in SRS. We used single nucleotide polymorphism (SNP) microarrays to investigate the cause of phenotypic features of SRS that shows autosomal recessive inheritance in three consanguineous families, two from United Arab Emirates (UAE), and one from Jordan. The mapped regions contained CUL7 and OBSL1, the genes that have recently been shown to cause 3-M syndrome. Subsequently, direct DNA sequencing of CUL7 and OBSL1 genes revealed novel mutations in both genes including two mutations in OBSL1 [c.1119G>C (p.W373C) and c.681_682delinsTT (p.Q228X)], and a nonsense mutation in CUL7 [c.203G>A (p.W68X)]. In addition, a six nucleotide deletion in CUL7 [c.649_654delAGCCGC (p.217_218delSR)] was found in a consanguineous family from UAE that had the typical features of 3-M. As a result of these findings, we question the identity of the autosomal recessive SRS and suggest that all apparently recessive SRS families should be tested for mutations in CUL7 and OBSL1.

Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.

We delineated a syndromic recessive preaxial brachydactyly with partial duplication of proximal phalanges to 16.8 Mb over 4 chromosomes. High-throughput sequencing of all 177 candidate genes detected a truncating frameshift mutation in the gene CHSY1 encoding a chondroitin synthase with a Fringe domain. CHSY1 was secreted from patients' fibroblasts and was required for synthesis of chondroitin sulfate moieties. Noticeably, its absence triggered massive production of JAG1 and subsequent NOTCH activation, which could only be reversed with a wild-type but not a Fringe catalytically dead CHSY1 construct. In vitro, depletion of CHSY1 by RNAi knockdown resulted in enhanced osteogenesis in fetal osteoblasts and remarkable upregulation of JAG2 in glioblastoma cells. In vivo, chsy1 knockdown in zebrafish embryos partially phenocopied the human disorder; it increased NOTCH output and impaired skeletal, pectoral-fin, and retinal development. We conclude that CHSY1 is a secreted FRINGE enzyme required for adjustment of NOTCH signaling throughout human and fish embryogenesis and particularly during limb patterning.

Brucellosis presenting as myelofibrosis: first case report.

We describe the case of a 29-year-old woman who presented with pancytopenia and myelofibrosis. Brucella melitensis was identified in her blood. The patient recovered completely with doxycycline and rifampin. A repeat bone marrow biopsy showed hypercellularity without myelofibrosis. Bone marrow findings in cases of pancytopenia due to brucellosis reveal normocellularity, hypercellularity, hemophagocytosis, or granuloma. To our knowledge this is the first report of brucellosis causing myelofibrosis. Brucellosis should be considered as a possible cause of myelofibrosis in endemic areas.

Griscelli syndrome type 2: a rare and lethal disorder.

Griscelli syndrome is a rare autosomal recessive disorder. It is characterized by pigment dilution and variable immune deficiency leading to increased susceptibility to certain infections and a tendency to develop a life-threatening hemophagocytic syndrome known as the accelerated phase. Griscelli syndrome is now classified into 3 types based on the genetic and molecular features. Primary neurological presentation without the accelerated phase is rare in type 2. In this article, the authors report a boy who was presented with seizures and diffuse white matter involvement unaccompanied by the other features of the accelerated phase. Mutation analysis in family members revealed the presence of a missense mutation in Rab27a gene. In addition to the rare presentation, this is the first case of Griscelli syndrome to be reported from Jordan.

Pseudoaneurysm of the breast after blunt trauma: successful treatment with ultrasound-guided compression.

We present a case of breast pseudoaneurysm following a blunt trauma in a 58-year-old woman. Few cases of breast pseudoaneurysm have been reported in the literature, and most of these are related to previous interventional procedures. Pseudoaneurysm was suspected on real-time sonography and confirmed with color Doppler and spectral wave analysis, which revealed a characteristic to-and-fro pattern. Unlike previously reported cases, treatmentwith ultrasound-guided compression was successful.

Consanguinity and genetic disorders. Profile from Jordan.

OBJECTIVE: With 20-30% of all marriages occurring between first cousins, increasing attention in Jordan is now given to role of consanguinity in the occurrence of genetic diseases. The objective of this study is to define the specific categories of genetic disorders associated with consanguineous marriages. METHODS: Etiological categories and consanguinity rates were studied among 623 families with genetic syndromes, congenital anomalies or mental retardation, or both, seen at the National Center for Diabetes, Endocrinology and Genetics for the period August 2002 to August 2006. Comparisons were made for first cousin marriage rates in the study group and that for the general population. RESULTS: First cousin marriages constituted 69%, 22% and 41.7% of marriages among families with autosomal recessive conditions (group 1), dominant, X-linked and chromosomal conditions (group 2) and sporadic undiagnosed conditions (group 3) respectively. The differences in rates of first cousin matings versus non-consanguineous matings were highly significant when comparing known figures in the general population with group 1 and 3, but not significant with group 2. CONCLUSION: Two messages to the public and health care personnel regarding consanguinity can be derived from this study. The first message is that among genetic disorders, only autosomal recessive disorders are strongly associated with consanguinity. The second message is that approximately 30% of sporadic undiagnosed cases of mental retardation, congenital anomalies and dysmorphism may have an autosomal recessive etiology with risks of recurrence in future pregnancies.

Hereditary multiple exostoses with pseudoaneurysm.

A 16-year-old male patient with hereditary multiple exostoses (HME) was found to have a pseudoaneurysm of the left popliteal artery caused by osteochondroma in the lower femur. The diagnosis was confirmed by ultrasound, magnetic resonance imaging and magnetic resonance angiography without the need to perform an angiogram. The osteochondroma was excised and the popliteal artery was repaired with a saphenous graft. Vascular complications are extremely rare in HME, pseudoaneurysm being the most common and mostly located in the popliteal artery. This complication should be considered in young HME patients with a mass at the knee region. The radiological spectrum of investigations allows the diagnosis of this complication with proper and less invasive management procedures for the patient.

Ataxia-telangiectasia complicated by craniopharyngioma--a new observation.

Ataxia-telangiectasia is a rare autosomal recessive neurodegenerative disorder with high incidence of malignancy including leukemias, lymphomas, and solid tumors. Central nervous system tumors in ataxia telangiectasia include medulloblastomas and gliomas. We describe a 13-year-old girl with ataxia telangiectasia who developed craniopharyngioma and non-Hodgkin's lymphoma. To our knowledge, this is the first case of ataxia telangiectasia complicated by craniopharyngioma in the English literature.

Familial short fifth metacarpals and insulin resistance.

Very few reports on the phenotype of short fifth metacarpals have been published in the medical literature. We report a Jordanian family in which three sisters aged 15, 13 and 8 years revealed bilateral shortening of the fifth fingers and radiological shortening of the fifth metacarpals. The father had unilateral short fifth metacarpal. The elder two sisters, their father as well as their brother and another sister manifested insulin resistance. Spherocytosis was diagnosed in one of the girls and her father. The parents are non-consanguineous. This constellation of findings has not been previously reported and could point to the presence of two disorders segregating in the family or to a novel syndrome with autosomal dominant inheritance and variable expressivity.

Factors affecting common bile duct diameter.

BACKGROUND/AIMS: The purpose of the study was to see the effect of age, sex, body mass index, previous cholecystectomy, hepatomegaly and fasting status on the common bile duct diameter. METHODOLOGY: A series of 463 patients, 283 females and 180 males, with no hepatobiliary or pancreatic pathology were included in this study, the mean age was 45 +/- 16 years. Their age, sex, weight, height, fasting status and previous cholecystectomy was assessed and recorded by a physician prior to ultrasound examination. All patients were examined by real-time ultrasound to see if there was any pathology in the hepatobiliary and pancreatic area. Those with history of common bile duct exploration, endoscopic sphincterotomy or with previous history of cholecystectomy of less than 6 months and patients with common bile duct pathology were excluded from the study. The midportion of the common bile duct was taken as a fixed measurement for all patients and the size of the liver was also recorded. Analysis of variance as part of SPSS statistical package was used where common bile duct was considered a dependent variable, while sex, fasting status, hepatomegaly and previous cholecystectomy were considered to be independent variables, age and sex were considered as co-variants. RESULTS: The factors found to be significantly affecting the diameter of the common bile duct (P<0.05) were age, previous cholecystectomy and body mass index. CONCLUSIONS: If the CBD dilatation can not be explained by age, previous cholecystectomy and BMI, a pathology causing obstruction should be ruled out.

Cockayne syndrome in 2 siblings.

Cockayne syndrome is a rare autosomal recessive condition characterized by growth failure and multisystem progressive degeneration. We report and describe this syndrome in a Jordanian brother and sister with Cockayne syndrome with first cousin parents. Clinical features included short stature, cachectic senile look, neurological deterioration, photosensitivity, mental retardation, hearing impairment and carious teeth. The phenotype is compatible with a mild variant of type I Cockayne syndrome. They showed an exaggerated response to growth hormone provocation test, with slightly elevated basal insulin-like growth factor 1 levels. The radiological findings of thinning of ribs and slender femora with narrow medullary canals have not previously been reported in this syndrome. We discuss the implications of these findings.