The acrocallosal syndrome and Greig syndrome are not allelic disorders.

Acrocallosal syndrome is an autosomal recessive form of polysyndactyly associated with mental retardation and agenesis of the corpus callosum. There have been suggestions that it is allelic to the Greig cephalopolysyndactyly syndrome. Linkage analysis, using flanking markers, shows this suggestion is unlikely to be correct.     

An epidemiological study on gender differences in self-reported seasonal changes in mood and behaviour in a general population of northern Sweden

Gender differences have been reported regarding symptoms, prevalence and heritability of seasonal affective disorders (SAD). We focus on gender aspects in this study of self-reported seasonal changes in mood and behaviour in a general population. The Seasonal Pattern Assessment Questionnaire (SPAQ) was completed by 2620 adults (55.6% women) aged 35-85 years, enrolled in the Betula prospective random cohort study of Ume?, Sweden. October to February turned out to be suitable winter months. SAD was found in 2.2% and sub-syndromal SAD (S-SAD) in 5.7%. Women had about 1.5 times higher prevalences than men, and seasonality problems decreased with age in both genders. Preference for eating least was distributed with a peak in summer, whereas preference for eating most had a major peak in winter (winter eaters) and a minor peak in summer (summer eaters). Significantly more of winter eaters in women, and significantly more of summer eaters in men, felt worst in winter. Seasonal change in weight was considered significantly as a problem by women but not by men. Winter behaviour of sleeping most was considered significantly as a problem by men but not by women. Women reacted significantly to temperature-related changes (negatively to cold/short days and positively to hot/long days), whereas men reacted significantly to sunshine-related changes (negatively to cloudy days and positively to sunny days). Subtle gender differences may thus underlie the pathophysiology of seasonal problems. Studies of an eventual efficacy of treating SAD women with raised ambient temperature, and gender-specific comparisons with other therapies, would be of interest.     

Role of mammogram and ultrasound imaging in predicting breast cancer subtypes in screening and symptomatic patients

BACKGROUNDBreast cancer (BC) radiogenomics, or correlation analysis of imaging features and BC molecular subtypes, can complement genetic analysis with less resource-intensive diagnostic methods to provide an early and accurate triage of BC. This is pertinent because BC is the most prevalent cancer amongst adult women, resulting in rising demands on public health resources. AIMTo find combinations of mammogram and ultrasound imaging features that predict BC molecular subtypes in a sample of screening and symptomatic patients. METHODSThis retrospective study evaluated 328 consecutive patients in 2017-2018 with histologically confirmed BC, of which 237 (72%) presented with symptoms and 91 (28%) were detected via a screening program. All the patients underwent mammography and ultrasound imaging prior to biopsy. The images were retrospectively read by two breast-imaging radiologists with 5-10 years of experience with no knowledge of the histology results to ensure statistical independence. To test the hypothesis that imaging features are correlated with tumor subtypes, univariate binomial and multinomial logistic regression models were performed. Our study also used the multivariate logistic regression (with and without interaction terms) to identify combinations of mammogram and ultrasound (US) imaging characteristics predictive of molecular subtypes.RESULTSThe presence of circumscribed margins, posterior enhancement, and large size is correlated with triple-negative BC (TNBC), while high-risk microcalcifications and microlobulated margins is predictive of HER2-enriched cancers. Ductal carcinoma in situ is characterized by small size on ultrasound, absence of posterior acoustic features, and architectural distortion on mammogram, while luminal subtypes tend to be small, with spiculated margins and posterior acoustic shadowing (Luminal A type). These results are broadly consistent with findings from prior studies. In addition, we also find that US size signals a higher odds ratio for TNBC if presented during screening. As TNBC tends to display sonographic features such as circumscribed margins and posterior enhancement, resulting in visual similarity with benign common lesions, at the screening stage, size may be a useful factor in deciding whether to recommend a biopsy.CONCLUSIONSeveral imaging features were shown to be independent variables predicting molecular subtypes of BC. Knowledge of such correlations could help clinicians stratify BC patients, possibly enabling earlier treatment or aiding in therapeutic decisions in countries where receptor testing is not readily available.     

Prediction of outcomes for brainstem cavernous malformation

Objective

Brainstem cavernous malformation (CM) poses a challenge to neurosurgeons in terms of operability, postoperative complications and unpredictable outcomes. The present study was conducted to analyze the clinical parameters that might predict the outcomes and to summarize our center experience in treatment of brainstem CM.

Methods

A total 59 patients with radiological and histologically confirmed brainstem CM diagnosed between 2000 and 2012 were retrospectively reviewed. All but five patients were deemed amenable to surgical resection. Complete resection was attempted in all CM and was achieved in 58/59 patients. Modified Rankin scale (mRS) score dichotomized as mRS 0–2 (favorable outcome) or mRS 3–6 (unfavorable outcome) was employed for neurological status assessment. The association of various clinical parameters to the different brainstem location was evaluated. Predictors of the surgical outcomes were analyzed using the univariate and multivaraite regression statistics.

Results

Mean age of 32 female and 27 male patients was 34.3 years. The differences in size of cavernoma, conservative treatment and complications were significantly associated with various location of the CM in the brainstem. Clinical parameters including age at presentation (p = 0.029, OR = 0.061, CI = 0.009–0.414), favorable preoperative mRS (p = 0.004, OR = 0.058, CI = 0.009–0.343), pontine location of CM (p = 0.018, OR = 0.017, CI = 0.001–0.495), and early surgical treatment (p = 0.05, OR = 0.087, CI = 0.07–1.03) were independent predictors of favorable surgical outcomes. Mean long-term follow up of 42.9 months was available in 31/59 (52.5%). The mean size of CM was 22.5 mm; small size (<10 mm) at presentation was associated with favorable outcomes at long-term follow-up (univariate analysis, p = 0.041, adjusted R² = 0.471). Preoperative mRS (p = 0.039) and location of the CM (p = 0.034) in the brainstem were predictors of good surgical outcomes at long term follow-up.

Conclusion

Favorable surgical outcomes can be predicted in brainstem CM patients with early age at presentation, pontine location of the cavernoma, favorable preoperative mRS and those undergoing early surgery. The outcomes at long-term follow-up were associated with location of the CM in the brainstem, size of the CM and the preoperative mRS.     

Salivary level of interleukin-8 in oral precancer and oral squamous cell carcinoma

Background

Interleukin 8 (IL-8) is a pro-angiogenic, pro-inflammatory mediator that belongs to the family of chemokines. Due to its pro-angiogenic characteristic, it may play a vital role in tumour angiogenesis and progression.

Objectives

This study was designed to estimate the levels of salivary IL-8 in oral precancer and oral squamous cell carcinoma (OSCC) patients and compare them with healthy controls. The aim was to evaluate its efficacy as a potential biomarker for these diseases.

Materials and methods

Each group comprised 25 individuals. The salivary IL-8 levels were determined by enzyme-linked immunosorbent assay.

Results

The levels of salivary IL-8 were found to be significantly elevated in patients with OSCC as compared to the precancer group (p?<?0.0001) and healthy controls (p?<?0.0001). However, the difference in salivary IL-8 concentrations among the precancer group and controls was statistically non-significant (p?=?0.738).

Conclusions

Our results suggested that salivary IL-8 can be utilised as a potential biomarker for OSCC. Salivary IL-8 was found to be non-conclusive for oral premalignancy in this preliminary study. Hence, its possible role in transition from premalignancy to malignancy needs further research with larger sample sizes.

Clinical relevance

Saliva as a diagnostic biofluid offers a number of advantages over blood-based testing. The role of IL-8 in oral cancer if validated further by future research can provide an easy diagnostic test as well as a prognostic indicator for patients undergoing treatment. Therefore, if it’s role in tumourigenesis can be sufficiently assessed, it could open up new avenues to find out novel treatment modalities for oral cancer.     

Obturator hernia: A diagnostic challenge

INTRODUCTIONObturator hernia is an extremely rare type of hernia with relatively high mortality and morbidity. Its early diagnosis is challenging since the signs and symptoms are non specific.PRESENTATION OF CASEHere in we present a case of 70 years old women who presented with complaints of intermittent colicky abdominal pain and vomiting. Plain radiograph of abdomen showed acute dilatation of stomach. Ultrasonography showed small bowel obstruction at the mid ileal level with evidence of coiled loops of ileum in pelvis. On exploration, Right Obstructed Obturator hernia was found. The obstructed Intestine was reduced and resected and the obturator foramen was closed with simple sutures. Postoperative period was uneventful.DISCUSSIONObturator hernia is a rare pelvic hernia and poses a diagnostic challenge. Obturator hernia occurs when there is protrusion of intra-abdominal contents through the obturator foramen in the pelvis. The signs and symptoms are non specific and generally the diagnosis is made during exploration for the intestinal obstruction, one of the four cardinal features. Others are pain on the medial aspect of thigh called as Howship Rombergs sign, repeated attacks of Intestinal Obstruction and palpable mass on the medial aspect of thigh.CONCLUSIONObturator hernia is a rare but significant cause of intestinal obstruction especially in emaciated elderly woman and a diagnostic challenge for the Doctors. CT scan is valuable to establish preoperative diagnosis. Surgery either open or laproscopic, is the only treatment. The need for the awareness is stressed and CT scan can be helpful.     

Tailgut cyst: A case report in a 9-month-old infant

INTRODUCTIONTailgut cysts or retrorectal cystic hamartomas are rare developmental anomalies that are believed to arise from the embryonic hindgut.PRESENTATION OF CASE9 months old male infant was presented with swelling in the right gluteal region. MRI lumbo-sacral spine showed well defined round to oval lesion which is brightly hypertense on T2W1 and hypotense on T1W1 posterior to sacrum and coccyx with no evidence of connection to the thecal sac indicating cyst. Complete excision of the cyst was done. Histopathology report shows cyst wall partially lined with stratified squamous epithelium and cyst wall shows spaces lined by cuboidal epithelium and nerve bundles with no evidence of malignancy suggestive of tailgut cyst.DISCUSSIONTailgut cysts are rare congenital anomalies. Most commonly located in the retrorectal space. They are thought to be derived from the remnants of the embryonic hindgut. Age ranges from 4 to 73 years but an average presentation is at 35 years. Female to male ratio is 3:1. MRI is a good diagnostic tool for diagnosis of tailgut cyst. Complete surgical excision is the treatment of choice as this provides a definite diagnosis and prevents possible complications such as infection, fistula formation and malignant degeneration.CONCLUSIONThe aim of presenting this case is its rarity. Complete surgical excision is the treatment of choice. Preoperative imaging with MRI is essential to plan the most appropriate surgical approach.     

Fracture of a titanium sleeve-encased third-generation ceramic liner in a modern THA

Due to their excellent tribology, ceramics are increasingly used for total hip arthroplasty (THA) in young patients. Fracture rates for contemporary ceramics range from 0% to 0.004%. Recently, ceramic liners are encased in a titanium sleeve to further decrease the chances of fracture. We encountered 1 case of a metal-encased acetabular liner fracture in a ceramic-on-ceramic articulation in a series of 764 hips. Our literature review revealed no reports of metal-encased ceramic liner fracture. A 60-year-old woman presented 27 months after a bilateral ceramic-on-ceramic THA. She reported mechanical grinding and clicking from the left hip on extension. There was no history of trauma or fall. Examination revealed a nonantalgic gait and audible-palpable crepitations on the left hip. Range of motion of the left hip was intact with no subluxation. Radiographs revealed fractured ceramic insert and an excessively anteverted socket on the left side. Intraoperative findings revealed gross impingement in the form of indentation of the metal femoral neck against the elevated metal rim encasing the liner. Revision THA was performed using an uncemented polyethylene liner while retaining the well-fixed cup and stem. The Harris Hip Score at 4.5-year follow-up was 100, with no evidence of osteolysis or polyethylene wear.     

Brain abscess caused by gemella morbillorum: case report and review of the literature

We describe a rare case of cerebral abscess in an immunocompetent 67-year-old male with Gemella morbillorum as the causative agent. Gemella morbillorum is an aerobic gram positive coccus and is deemed to be a normal inhabitant of the oral cavity. The aim of this report is to introduce Gemella morbillorum as the emerging pathogen involved in brain abscesses. To the best of our knowledge only eight cases of Gemella morbillorum brain abscess have been reported in the literature. An exhaustive review of the literature is included with emphasis on the primary source of infection, clinical presentation, radiological diagnosis, and treatment modalities.     

Comparison of two self-rating scales to detect depression: HADS and PHQ-9

Background

More than half of patients with depression go undetected. Self-rating scales can be useful in screening for depression, and measuring severity and treatment outcome.

Aim

This study compares the Hospital Anxiety and Depression Scale (HADS) and the Patient Health Questionnaire (PHQ-9) with regard to their psychometric properties, and investigates their agreement at different cut-off scores.

Method

Swedish primary care patients and psychiatric outpatients (n = 737) who reported symptoms of depression completed the self-rating scales. Data were collected from 2006 to 2007. Analyses with respect to internal consistency, factor analysis, and agreement (Cohen''s κ) at recommended cut-offs were performed.

Results

Both scales had high internal consistency (α = 0.9) and stable factor structures. Using severity cut-offs, the PHQ-9 (≥5) diagnosed about 30% more patients than the HADS depression subscale (HADS-D; ≥8). They recognised the same prevalence of mild and moderate depression, but differed in relation to severe depression. When comparing recommended screening cut-offs, HADS-D ≥11 (33.5% of participants) and PHQ-9 ≥10 (65.9%) agreement was low (κ = 0.35). Using the lower recommended cut-off in the HADS-D (≥8), agreement with PHQ-9 ≥10 was moderate (κ = 0.52). The highest agreement (κ = 0.56) was found comparing HADS-D ≥8 with PHQ-9 ≥12. This also equalised the prevalence of depression found by the scales.

Conclusion

The HADS and PHQ-9 are both quick and reliable. The HADS has the advantage of evaluating both depression and anxiety, and the PHQ-9 of being strictly based upon the Diagnostic and Statistical Manual of Mental Disorders. The agreement between the scales at the best suitable cut-off is moderate, although the identified prevalence was similar. This indicates that the scales do not fully identify the same cases. This difference needs to be further explored.