Paternal peri-conceptional physical activity and the risk of congenital heart disease in offspring: A case-control study.

BACKGROUND: Genetic and environmental factors have been shown to contribute to the development of congenital heart disease (CHD). To date, the focus of scientific articles has primarily centered on genetics and maternal environmental factors, with comparatively less attention given to paternal risk factors. OBJECTIVES: This study aims to investigate the potential association between paternal pre-conceptional physical activity levels (PA), along with paternal peri-conceptional smoking and alcohol consumption, and the risk of CHD in offspring. MATERIALS AND METHODS: An observational case-control study was conducted in Lebanon, with 279 participants, aiming to investigate potential risk factors for CHD. We included children with confirmed CHD, born between 2012 and 2022. Controls born in the same timeframe were selected randomly from the general population using online questionnaire forms. Mean age of children included was 6 years old (0-10). The pre-conceptional PA was assessed using the Global Physical Activity Questionnaire validated in Arabic. In addition, paternal smoking, alcohol consumption, and maternal risk factors were collected. RESULTS: The study included 128 CHD cases (45.9%) and their parents, as well as 151 healthy infants (54.1%) and their parents. There were no statistically significant variations in the alcohol consumption noted between the fathers in the case and control groups (p = 0.18). The paternal involvement in recreational-related PA during the peri-conception period was associated with a reduced risk of the CHD development in offspring by 46.9% (OR = 0.531, 95% CI: 0.301-0.936, p = 0.029). Additionally, increasing paternal total sitting time by 1 h above the average, which was approximately 260 min (4 h), increased the risk of CHD in offspring by 0.4% (p = 0.001). Moreover, paternal smoking exhibited an apparent association with a 56% increased risk of offspring developing CHD, notwithstanding that the confidence intervals included the null (OR = 1.56, 95% CI: 0.86-2.8, p = 0.136). DISCUSSION AND CONCLUSION: This observational study is the first to report a potential association between paternal PA, and CHD in offspring. This study aligns with previous reports, advocating for the paternal engagement in PA and the adoption of healthy lifestyle habits, especially during the critical stages of conception. Such practices are strongly recommended to enhance fertility and promote optimal health for offspring. However, due to the subjectivity in reporting PA and lack of molecular proof, additional prospective and molecular studies are required to validate these findings.

Treatment options for autoimmune bullous dermatoses other than systemic steroids: A systematic review and network meta-analysis.

Autoimmune blistering diseases can eventually cause life-threatening complications if left untreated. Although there is no cure for these bullous diseases; their therapy is based on suppressing the immune system to cease the de novo formation of the generated antibodies. The current study aimed to assess the safety and efficacy of using standing alone alternative therapies beyond systemic steroids for management of autoimmune bullous diseases. We searched six literature databases for both randomized and quasi-randomized clinical trials that assessed the efficacy of drugs other than systemic steroids in autoimmune bullous diseases. Outcomes were calculated as odds ratios with 95% confidence-interval. We used the R software to perform conventional and network meta-analyses with a frequentist approach. The network ranking order for 629 bullous pemphigoid patients, from the best to the worst was, clobetasol propionate cream (40 mg; (P-score = .87), clobetasol propionate cream (10-30 mg; P-score = .77), nicotinamide plus tetracycline (P-score = .56), steroids (P-score = .29) and doxycycline (P-score = .01). Limitations of this study are the small sample of the included studies except for blister trial and lack of randomization in most trials. To conclude, Combined doxycycline and nicotinamides are safer and more effective option for extensive bullous pemphigoid patients than the usual use of systemic steroids. For limited disease, topical corticosteroid (40 mg/d) use provides a safer and better response modality than the other proposed treatments.

Neural modulation for hypertension and heart failure.

Hypertension (HTN) and heart failure (HF) have a significant global impact on health, and lead to increased morbidity and mortality. Despite recent advances in pharmacologic and device therapy for these conditions, there is a need for additional treatment modalities. Patients with sub-optimally treated HTN have increased risk for stroke, renal failure and heart failure. The outcome of HF patients remains poor despite modern pharmacological therapy and with established device therapies such as CRT and ICDs. Therefore, the potential role of neuromodulation via renal denervation, baro-reflex modulation and vagal stimulation for the treatment of resistant HTN and HF is being explored. In this manuscript, we review current evidence for neuromodulation in relation to established drug and device therapies and how these therapies may be synergistic in achieving therapy goals in patients with treatment resistant HTN and heart failure. We describe lessons learned from recent neuromodulation trials and outline strategies to improve the potential for success in future trials. This review is based on discussions between scientists, clinical trialists, and regulatory representatives at the 11th annual CardioVascular Clinical Trialist Forum in Washington, DC on December 5-7, 2014.

Patterns of clinical presentation of adult coeliac disease in a rural setting.

BACKGROUND: In recent years there has been increasing recognition that the pattern of presentation of coeliac disease may be changing. The classic sprue syndrome with diarrhoea and weight loss may be less common than the more subtle presentations of coeliac disease such as an isolated iron deficiency anaemia. As a result, the diagnosis of this treatable condition is often delayed or missed. Recent serologic screening tests allow non-invasive screening to identify most patients with the disease and can be applied in patients with even subtle symptoms indicative of coeliac disease. Both benign and malignant complications of coeliac disease can be avoided by early diagnosis and a strict compliance with a gluten free diet. AIM: The aim of this study is to evaluate the trends in clinical presentation of patients diagnosed with adult coeliac disease. In addition, we studied the biochemical and serological features and the prevalence of associated conditions in patients with adult coeliac disease. METHODS: This is an observational, retrospective, cross-sectional review of the medical notes of 32 adult patients attending the specialist coeliac clinic in a district general hospital. RESULTS: Anaemia was the most common mode of presentation accounting for 66% of patients. Less than half of the patients had any of the classical symptoms of coeliac disease and 25% had none of the classical symptoms at presentation. Anti-gliadin antibodies, anti-endomysial antibody and anti-tissue transglutaminase showed 75%, 68% and 90% sensitivity respectively. In combination, serology results were 100% sensitive as screening tests for adult coeliac disease. Fifty nine percent patients had either osteoporosis or osteopenia. There were no malignant complications observed during the follow up of our patients. CONCLUSION: Most adults with coeliac disease have a sub clinical form of the disease and iron deficiency anaemia may be its sole presenting symptom. Only a minority of adult coeliac disease patients present with classical mal-absorption symptoms of diarrhoea and weight loss. Patients with atypical form of disease often present initially to hospital specialists other than a gastro-enterologist. An awareness of the broad spectrum of presentations of adult coeliac disease, among doctors both in primary care and by the various hospital specialists in secondary care, is necessary to avoid delays in diagnosis. It is important to include serological screening tests for coeliac disease systematically in the evaluation of adult patients with unexplained iron deficiency anaemia or unexplained gastro-intestinal symptoms and in those who are considered to be at increased risk for coeliac disease.

Bone density of the first sacral vertebra in relation to sacral screw placement: a computed tomography study.

A visual three-dimensional image of the first sacral vertebra was constructed using computer software to predict the sites of strong density for better screw purchase of upper sacrum. Forty dry sacrum specimens were scanned in the prone position. An axial section, 10 mm below the S1 end plate, was selected for determining density at the region of interest. All images were stored on an optic disc and studied using the NIH Image 1.61 program. Plot analysis assessed the bone density in different regions. Also, three-dimensional pictures of the different screw paths and the related bone density in the upper sacrum were analyzed. Bone density in the anterolateral part of S1 was 115.1 +/- 10.4 pixel. Bone density for males (-99.7 +/- 11.3) was greater than for females (-131.4 +/- 9.6). Bone density in the anterolateral alar region was -108 +/- 10.6. The bone density for males (-95.6 +/- 9.8) and females (121.4 +/- 11.7) was more than the body region. Bone density in the middle anterior cortex of the ala was 759.8 +/- 11.6. Bone density for males (878.2 +/- 10.7) was greater than for females (637.6 +/- 11.9). Using surface plot, the midanterior cortex of the ala had high cortical density compared with other areas. The midanterior cortex of the sacral ala had the highest bone density. Sacral screw purchase in the midanterior cortex provides better mechanical fixation.

Anterior approach to the cervical spine: surgical anatomy.

While performing the anterior approach to the cervical vertebral bodies, injury to important anatomic structures in the vicinity of the dissection represents a serious risk. The midportion of the recurrent laryngeal nerve and the external branch of the superior laryngeal nerve are encountered in the anterior approach to the lower cervical spine. The recurrent laryngeal nerve is vulnerable to injury on the right side, especially if ligation of inferior thyroid vessels is performed without paying sufficient attention to the course and position of the nerve, and the external branch of the superior laryngeal nerve is vulnerable to injury during ligature and division of the superior thyroid artery. Avoiding injury to the recurrent laryngeal nerve (especially on the right side) and superior laryngeal nerve is a major consideration in the anterior approach to the lower cervical spine. The sympathetic trunk is situated in close proximity to the medial border of the longus colli at the C6 level (the longus colli diverge laterally, whereas the sympathetic trunk converges medially). The damage leads to the development of Horner's syndrome with its associated ptosis, meiosis, and anhydrosis. Awareness of the regional anatomy of the sympathetic trunk may help in identifying and preserving this important structure while performing anterior cervical surgery or during exposure of the transverse foramen or uncovertebral joint at the lower cervical levels. Finally, the spinal accessory nerve (embedded in fibroadipose tissue in the posterior triangle of the neck) is prone to injury. Its damage will result in an obvious shoulder droop, loss of shoulder elevation, and pain. Prevention of inadvertant injury to the accessory nerve is critical in the neck dissection.

Occipital screws in occipitocervical fusion and their relation to the venous sinuses: an anatomic and radiographic study.

This study examined the safe zone for placement of occipital screws without endangering the sinuses. In the first part of the study, 10 cadaveric skulls were exposed. The borders of the confluences and the transverse sinuses were located on the outer table of the occiput. In the second part of the study, six cadaveric skulls were used and screws were placed in different sites and angiography of the venous sinuses was performed. The exact location of the venous sinuses on the outer table of the occiput were analyzed. The examination of the relationship between occipital screws placed at different sites and the venous sinuses clearly demonstrated that whenever the screws were inserted at the level of the external occipital protuberance, or 1 cm below it, sinus injury could rarely be avoided. To enhance the safety of the occipitocervical fusion, the external occipital protuberance should be avoided, and occipital screws should be placed at least 2 cm below the superior nuchal line.

Computed tomography in the determination of transarticular C1-C2 screw length.

This study evaluated the significance of computed tomographic (CT) measurements of the upper cervical vertebrae and their clinical implications in transarticular C1-C2 screw placement. In the first part of the study, analysis of axial CT scans of the atlas of 46 patients who had a normal C1-C2 region was performed. Measurements included the vertical distance between the middle of the ventral cortex of the lateral mass and the anterior-most point of the anterior tubercle, and the angle of the anterior ring of C1 relative to the frontal plane. In the second part, axial CT scans of the upper cervical spine were performed in seven cadaveric cervical spines and analyzed using the same criteria. Using the Magerl technique of transarticular C1-C2 screw placement, one screw was placed in each cervical spine. Following each placement, a strict lateral radiograph was taken and the distance between the tip of the screw and the anterior-most point of the anterior tubercle of C1 was measured. Analysis of the cervical cadaveric specimens showed the vertical distance between the middle of the ventral cortex and the anterior-most part of the anterior tubercle when measured on CT scan corresponded to the distance measured on lateral radiographs after placement of the C1-C2 transarticular screw. The study of the 46 patients with normal C1-C2 region had shown the mean values of linear and angular measurements to be greater in males than in females, although no significant difference was found between the two groups (P>.05). The mean distance between the anterior-most point of the anterior tubercle and the middle of the ventral cortex of the lateral mass was 6.5+/-1 mm, and the mean transverse angle of the anterior ring relative to the frontal plane was 22 degrees+/-3.1 degrees. Axial CT evaluation of the individual anatomic relationships of the atlas is simple and may be a useful guide in the determination of the length of the transarticular screw when performed during surgery under lateral fluoroscopic control.

Internal architecture of the sacrum in the elderly. An anatomic and radiographic study.

STUDY DESIGN: A description of the internal architecture of the sacrum, including its trabecular arrangement, cortical thickness, and overall bone density. OBJECTIVES: To determine the strong and weak areas in the sacrum to understand more clearly the sacral structure and its clinical implications. METHODS: First, seven cadaveric sacral specimens were sectioned in different planes. Horizontal sections were performed at the upper S1, middle S1, S2, S3, and S4. Sagittal sections were made through the median sacral crest, the sacral foramina, and medial to the articular surface. A coronal section through the whole length of a sacral specimen was produced. All sections were studied radiographically, and the trabecular pattern was analyzed. In the second part of the study, axial computed tomography scans of 40 dry sacrum specimens were analyzed by using the National Institutes of Health Image 1.61 program. The cortical thickness and bone density were determined. RESULTS: In the upper sacrum, three distinctive distributions of bony trabeculae were noted, one extending from the center of the sacral body anterolaterally, and the other two extending from the pedicle toward the auricular surface. A condensation zone was observed at the intersection of these trabeculae and was located at the anterior cortex of the foraminal zone. The junction between S2 and S3 represented a weak area with abrupt disappearance of the condensation zone. Analysis of the bone density of the sacrum using the plot analysis demonstrated that, at S1 and S2, the anterior cortex of the foraminal zone (condensation zone) is the most compact part of the sacrum. CONCLUSION: These results suggest that the strongest part of the sacrum is the anterior cortex above the foramina in S1 and S2. The weakest point of the sacrum was found to lie at the level of the junction of S2 and S3.

Internal architecture of the talus: implication for talar fracture.

The internal architecture of the talus has not previously been well described even though the morphological anatomy and the blood supply have been studied extensively. This study describes the internal architecture of the talus regarding its trabecular orientation, using high-resolution x-ray images of 13 dry tali and thick sections in the coronal, sagittal, and axial planes. The trabecular arrays and their relationship to talar fractures are described. The trabecular content of the neck of the talus is less than that of the head or the body. The direction of the trabecula in the neck is different from the orientation of the talar body trabeculae.

Primary alveolar soft part sarcoma of bone.

AIMS: Alveolar soft part sarcoma is a distinct, rare soft tissue tumour occurring primarily within the skeletal muscles or musculofascial planes in young adults. Primary involvement of bone is extremely rare. We report on six patients with alveolar soft part sarcoma occurring primarily in bone. METHODS AND RESULTS: Thorough clinical and radiographic examinations were done to rule out any other primary site. The patients were four women and two men aged 17-35 years (mean, 24.5 years). The primary site of the tumour was the femur in three patients, the ilium in one and the fibula in two. In one of the patients with fibular involvement, the tibia was also involved by direct extension. Of the long bone lesions, three were centred in the metaphysis and one in the diaphysis. Radiographically, all of the lesions demonstrated an osteolytic pattern of bone destruction with ill-defined margins and a wide zone of transition between the lesion and adjacent normal bone. Microscopically, all tumours showed the typical histological pattern of alveolar soft part sarcoma. Diastase-resistant, periodic acid-Schiff-positive crystalline structures were identified within the cytoplasm and confirmed ultrastructurally. Immunohistochemically, a keratin stain was negative in all cases; there was positive staining for MyoD1 in the cytoplasm but not the nuclei. Distant metastasis developed in four patients; one died. CONCLUSION: Alveolar soft part sarcoma arising in bone is extraordinarily rare but should be considered in the differential diagnosis of metastatic hypernephroma in a young patient.

Radiographic evaluation of talonavicular joint after talar screw placement: a cadaver study.

Twelve cadaver feet were used for a radiographic assessment of the talonavicular joint. A 4.0- or a 6.5-mm screw was inserted through the posterior tubercle of the talus, directed anteriorly into four quadrants of the talar head. Lateral, dorsoplantar, lateral oblique, and medial oblique radiographic views were obtained for each specimen, to assess the position of the screw tip in relation to the talonavicular joint. The lateral view consistently demonstrated the screw tip violation when the screw was directed through the center of the talar head, but it failed when screws were passed into the medial or lateral quadrants of the talar head. The dorsoplantar view consistently demonstrated a screw tip violation of the superior two quadrants of the talar head when other views failed. Each screw tip violation of the inferior quadrants (medial and lateral) required a different view. A screw tip violation of the inferior medial quadrant required the lateral oblique view, whereas the inferior lateral quadrant required the medial oblique view for full appreciation. Here again, other views failed to demonstrate minor screw tip violations consistently. Using these views to assess screw placement could decrease the risk of developing posttraumatic arthritis caused by screw tip violation of the talonavicular joint.

Open reduction and internal fixation of fracture of the posterior process of the talus: a case report and review of the literature.

A fracture of the posterior process of the talus is rare. In this report, we present a case of isolated displaced fracture of the posterior process of the talus, which was treated by early open reduction and internal fixation through a posteromedial approach. The fracture healed without evidence of avascular necrosis of either the posterior fragment or the talar body. The purpose of this article is to highlight the importance of early postoperative management of this uncommon type of fracture.