Association Between Foramen Rotundum and Trigeminal Neuralgia in the Saudi Population: A Radiological Study.

The trigeminal nerve is responsible for transmitting sensory information from the face, nasal and mouth cavities, and most of the scalp. Trigeminal neuralgia (TN) is a chronic facial pain disorder characterized by spontaneous paroxysmal pain throughout the distribution of the trigeminal nerve. This study investigated the morphological and morphometric variations of the foramen rotundum (FR) and its association with TN through a retrospective radiological analysis. A cohort of 97 participants from King Fahad University Hospital, Saudi Arabia, comprising 57 TN patients and 40 controls, underwent head CT scans for measurement and analysis. The study revealed significant differences in the FR morphology between TN patients and controls, particularly noting narrower FR measurements among TN individuals, especially in females. The right side demonstrated narrower FR dimensions, potentially correlating with the predominant side of pain in TN patients. While the presence of bony spurs was absent in all participants, variations in FR shape, size, and spatial positioning were observed and compared across genders and groups. These findings provide crucial insights into the potential anatomical factors contributing to TN, emphasizing the importance of understanding FR variations in clinical assessment and management of TN cases. Further research focusing on FR morphology and its clinical implications is recommended to enhance understanding and aid medical professionals in addressing TN-related concerns.

Morphometric Parameters of the Ear and Their Sexual Dimorphism in the Eastern Province of Saudi Arabia.

Background The human ear is a distinctive facial feature, revealing valuable information about ethnicity, gender, and age. Anthropometric measures play a crucial role in fields such as forensic medicine, prosthetics, and plastic surgery. The external ear, known for its diversity in structure and individual characteristics, has become a subject of interest in various populations. This study aims to determine the mean values of morphometric measurements for both right and left ears while exploring sexual dimorphism in ear dimensions. Methodology A prospective, observational, cross-sectional study was conducted among 200 volunteers from the eastern province of Saudi Arabia, comprising 98 males and 102 females, at the Department of Anatomy, Institute of Medical Sciences, Imam Abdulrahman Bin Faisal University. Participants were randomly selected from King Fahad University Hospital workers and patients. Using a Vernier caliper and after obtaining consent, various aspects of ear morphology were measured. The study employed statistical analyses such as the volunteers' t-test, Pearson's coefficient of correlation, and linear regression equations. Results In males, the mean total height of the right and left ears was 6.054 ± 0.5394 and 6.044 ± 0.5235 cm, respectively, while for females, it was 5.489 ± 0.4481 and 5.763 ± 4.8446 cm, respectively. The mean widths, heights, and other dimensions of the ears exhibited variations between genders. Conclusions The study provides comprehensive insights into the dimensions and indices of the pinna among the population of the eastern province of Saudi Arabia. The findings confirmed the presence of sexual dimorphism in the ear measurements, consistent with observations in other ethnic groups.

Morphological variations and morphometry details of the foramen ovale in the Saudi population: a retrospective radiological study.

The foramen ovale is one of the essential foramina in the middle cranial fossa, more precisely, in the superior surface of the greater wing of the sphenoid bone. It has essential surgical and diagnostic significance since it serves as a surgical landmark, and crucial neurovascular vessels such as the mandibular nerve and accessory meningeal artery pass through it. Therefore, understanding the morphological and morphometric variations of the foramen ovale is essential for accurately identifying, diagnosing, and managing related pathologies. The study aimed to evaluate the morphological variations and morphometric details of the foramen ovale in the Saudi population. A radiological study was conducted to observe the measurements and the shapes of the foramen ovale in the skull with its anatomical variants. Retrospective data was collected from the Department of Radiology, King Fahad University Hospital, Saudi Arabia. The sample consisted of 100 human skulls from computed tomography scans, including 50 males and 50 females. The values for the mean length, width, and distance from the midline on the right side were 6.462 mm ± 1.681 mm, 4.897 ± 1.0631 mm, and 2.4565 ± 0.51275 mm, and 6.451 ± 1.6691 mm, 4.812 ± 1.0848 mm and 2.4290 ± 0.60039 mm for the left side, respectively. The foramen shape was oval in the majority (47%), followed by round shape (31%) with no bony outgrowths such as spur in the studied foramina. Furthermore, the morphometric variation between males and females was statistically insignificant (p-value>0.05). The observed variation of foramen ovale in this study has significant anatomical and clinical applications for various diagnostic and surgical procedures.

Defining the Components of the Deltoid Ligament (DL): A Cadaveric Study.

BACKGROUND: The deltoid ligament (DL) is a strong triangle-shaped ligament with a complex fascicular arrangement. Understanding the morphological and/or functional typing of the DL structure is hindered by a paucity of clear, quantitative, and reproducible data and is further complicated by inconsistent terminology use. The aim of this work was to describe different components of the DL using strict identification criteria. METHODS: Thirty embalmed cadaveric ankles of both sides were dissected on all sides and studied by using gross examination, micro-dissection, and light microscopy by tracing the fascicular pattern of each under 6X magnification. RESULTS: Six ligamentous bands were identified. The tibiotalocalcaneal ligament (TTC) and the superficial posterior tibiotalar ligament (sPTT) were two superficial variants and the anterior tibiotalar ligament (ATT), the anterior tibiotalonavicular ligament (ATTN), the intermediate tibiotalar ligament (ITT), and the deep posterior tibiotalar ligament (dPTT) were four deep variants. The TTC was identified in all 30 embalmed cadaveric specimens. Five additional ligamentous bands (ITT, sPTT, dPTT, ATT, and ATTN) were variable findings in the current cohort. CONCLUSION: This study presents six ligamentous bands as a regular finding and five additional ligamentous bands as variable findings in the dissected specimen. This data could assist in the radiological diagnosis of DL injuries and advanced procedures related to its surgical repair and reconstruction.

Assessment of the Role of Gefitinib With Concurrent Chemoradiation in Locally Advanced Head and Neck Cancer.

BACKGROUND: The treatment of locally advanced head and neck carcinoma has been a combination of chemotherapy and radiation. The higher incidences of recurrence and metastasis warrant the search for an alternative therapy for better patient outcomes. This study was designed to evaluate the effect of gefitinib in conjunction with concurrent chemoradiation in locally advanced stages III and IV head and neck cancer. METHODOLOGY: The patients were equally divided into two groups: Group I received cisplatin 100 mg/m2 on the first, 22nd, and 43rd days together with the radiation, whereas Group II was given the same treatment as Group I together with oral doses of gefitinib 250 mg on a daily basis, starting two weeks prior to radiotherapy and continuing until the completion of it. The dose of radiotherapy was 2 Gray (Gy) per fraction given over a period of five days per week to a maximum of 70 Gy in locally higher grades of head and neck neoplasms. The evaluation was performed in accordance with the RECIST (Response Evaluation Criteria in Solid Tumors) criteria, which include stable disease (SD), progressing disease (PD), partial response (PR), and complete response (CR). Salvage chemotherapy, potential surgical intervention, or palliative care was presented to patients with remaining or recurring diseases. The grading of the patients for acute and chronic radiation morbidity was done according to the Radiation Therapy Oncology Group (RTOG) criteria for toxicity during radiation treatment and at each subsequent follow-up. Parameters such as site, nodal involvement, stage, tumor status, and Eastern Cooperative Oncology Group (ECOG) were recorded. RESULTS: On comparing the patient characteristics, no statistical significance was observed. The overall response was seen in 24 (80%) and 28 (83.33%) patients in Group I and Group II, respectively (p = 0.08). All patients in Group I and Group II reported xerostomia as an acute/chronic adverse event of chemotherapy. Similarly, mucositis, dysphagia, and diarrhea were observed in all the patients, and no statistical difference was observed. Seventeen (56.67%) patients in Group II had complaints of skin rashes, while four (13.33%) patients in Group I had similar complaints (p = 0.01). CONCLUSION: The study concludes that encouraging results were observed in comparing overall response after the addition of oral gefitinib to the traditional treatment of locally advanced head and neck neoplasms.

Sexual dimorphic parameters of femur: a clinical guide in orthopedics and forensic studies.

Sexual dimorphic studies of various parameters of the femur play an important role in forensic studies. Various femur morphometric parameters help estimate an individual's age, sex, and stature from unknown skeletal remains. This research was done to analyze maximum length, trochanteric oblique length, and diameter of the femur head for sexual dimorphism. The study was done on 200 (128 male & 72 female) Indian adult human femora, which were fully ossified, dry, and free from deformity. The maximum length of the femur (L), trochanteric oblique length (TOL), and vertical diameter of the head (VDH) were measured using an osteometric board and digital Vernier calipers. The mean length of the femur was 436.88 mm in males and 402.38 mm in females, respectively. The mean trochanteric oblique length of the femur was 423.78 mm in males and 387.18 mm in females, respectively. The mean vertical diameter of the femur head was 43 mm in males and 38.19 mm in females, respectively. Depending upon the results of this study, it was concluded that the mean values of maximum length, trochanteric oblique length, and vertical diameter of the femur head are significantly higher in males than females. These parameters are useful and reliable for sexual dimorphism in anthropometric and forensic studies, especially in identifying skeletal remains. These differences can also be considered in selecting or designing the exact ranges of the gender-specific prosthesis for Orthopedic surgeries.

Neonatal suppurative parotitis over the last 4 decades: report of three new cases and review.

BACKGROUND: Neonatal suppurative parotitis is a rare disease. Only 32 cases were reported in the English-language literature between 1970 and 2004. METHODS: We searched Medline for acute, neonatal, bacterial, suppurative, parotitis, facial, preauricular swelling starting from 1970, limiting our search to the English-language literature. We reviewed all the reported cases together with three more managed in our department. RESULTS: We identified nine new cases since 2004. The total number of patients reviewed was 44, including our patients. Most of them were male (77%). The majority developed unilateral inflamed parotid swelling (77%) and exuded pus from the ipsilateral Stensen duct. Fever was seen in fewer than half of them (47%). Premature babies constituted a third of the patients. Staphylococcus aureus was the leading causative agent (61%). Most patients responded well to conservative treatment with antibiotics (77%). The most frequently used combination of antibiotics was an anti-staphylococcal agent with either an aminoglycoside or a third-generation cephalosporin. A minority required surgical drainage. No deaths were reported in the group studied after 1970. CONCLUSION: Neonatal suppurative parotitis is rare but easy to diagnose and if readily treated with appropriate antibiotics the outcome is excellent.

Ethylmalonic encephalopathy. Another patient from Kuwait.

We report a Kuwaiti girl with ethylmalonic encephalopathy. She presented at the age of 4 months with chronic mucoid diarrhea and delayed psychomotor development, and at 6 months she developed myoclonic epilepsy. She was found to have central hypotonia with pyramidal tract signs, acrocyanosis, and petechiae. Plasma lactate level was elevated. Blood spot and urine for organic acids results were consistent with the diagnosis of ethylmalonic encephalopathy. Cerebral MRI showed basal ganglia and white matter changes. Gene mutation study revealed homozygous deletion of exon 4 of the ETHE1 gene. The patient died at 14 months after extensive bronchopneumonia. Our objective is to alert physicians to the existence of such a devastating disease in our community and their role in the early diagnosis in the index patient for proper genetic counseling.

Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene.

UNLABELLED: Allgrove syndrome (or triple-A syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency (glucocorticoid in the majority of cases) and autonomic/neurological abnormalities. This disease is now known to be caused by mutation in the AAAS gene located on chromosome 12q13. Diagnosis should be readily available when the full-blown features are there, but it becomes less apparent when presentation is atypical or in the evolving process. We present a brother and sister (12 and 19 y old, respectively) born to consanguineous parents of Palestinian origin with Allgrove syndrome. The index patient was erroneously diagnosed to be a case of familial dysautonomia before the diagnosis of adrenal insufficiency was made at the age of 7.5 y, while his elder sister had only alacrima from birth and developed achalasia at the age of 15 y. She started to develop early evidence of adrenal disease at the age of 19 y. Both of them had neuroautonomic dysfunction. The diagnosis of Allgrove syndrome was confirmed in these two patients by studying the gene mutation in the family. The sequencing of the AAAS gene in the two patients identified a novel homozygous mutation within intron 5 (IVS5+1G-->A). Both parents as well as all three other children were heterozygous for the same mutation. CONCLUSION: These two cases illustrate the heterogenous nature and the intrafamilial phenotypic variability of Allgrove syndrome.

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.

Hereditary juvenile megaloblastic anemia due to vitamin B12 (cobalamin) deficiency is caused by intestinal malabsorption of cobalamin. In Imerslund-Grasbeck syndrome (IGS), cobalamin absorption is completely abolished and not corrected by the administration of intrinsic factor (IF); if untreated, the disease is fatal. Biallelic mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS. In a series of families clinically diagnosed with likely IGS, at least six displayed no evidence of mutations in CUBN or AMN. A genome-wide search for linkage followed by mutational analysis of candidate genes was performed in five of these families. A region in chromosome 11 showed evidence of linkage in four families. The gastric IF (GIF) gene located in this region harbored homozygous nonsense and missense mutations in these four families and in three additional families. The disease in these cases therefore should be classified as hereditary IF deficiency. Clinically, these patients resembled those with typical IGS; radiocobalamin absorption tests had been inconclusive regarding the nature of the defect. In the diagnosis of juvenile cobalamin deficiency, mutational analysis of the CUBN, AMN, and GIF genes provides a molecular characterization of the underlying defect and may be the diagnostic method of choice.

Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.

Selective intestinal malabsorption of vitamin B(12) causing juvenile megaloblastic anemia (MGA; MIM# 261100) is a recessively inherited disorder that is believed to be rare except for notable clusters of cases in Finland, Norway, and the Eastern Mediterranean region. The disease can be caused by mutations in either the cubilin (CUBN; MGA1; MIM# 602997) or the amnionless (AMN; MIM# 605799) gene. To explain the peculiar geographical distribution, we hypothesized that mutations in one of the genes would mainly be responsible for the disease in Scandinavia, and mutations in the other gene in the Mediterranean region. We studied 42 sibships and found all cases in Finland to be due to CUBN (three different mutations) and all cases in Norway to be due to AMN (two different mutations), while in Turkey, Israel, and Saudi Arabia, there were two different AMN mutations and three different CUBN mutations. Haplotype evidence excluded both CUBN and AMN conclusively in five families and tentatively in three families, suggesting the presence of at least one more gene locus that can cause MGA. We conclude that the Scandinavian cases are typical examples of enrichment by founder effects, while in the Mediterranean region high degrees of consanguinity expose rare mutations in both genes. We suggest that in both regions, physician awareness of this disease causes it to be more readily diagnosed than elsewhere; thus, it may well be more common worldwide than previously thought.