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Acta Dermatovenerologica Croatica : ADC Mar 2024A 39-year-old Caucasian woman affected by Noonan Syndrome (NS) mutated in RAF1 was referred to us with itchy lesions on her limbs that had appeared two months earlier....
A 39-year-old Caucasian woman affected by Noonan Syndrome (NS) mutated in RAF1 was referred to us with itchy lesions on her limbs that had appeared two months earlier. Clinically, there were multiple umbilicated papules with a hyperkeratotic central plug, localized on the upper and lower limbs (Figure 1, a-b). The patient had no personal history of diabetes mellitus and no chronic renal failure, but suffered from hypertrophic cardiomyopathy. Blood tests showed no abnormalities. On histological examination of a skin lesion, an ectatic hair follicle with hyperkeratotic ostium was observed with fragments of hair, inflammatory cells, and epidermal perforation. A final diagnosis of Kyrle's disease (KD) was established. The patient underwent narrowband UVB (NB-UVB) phototherapy with residual atrophic scars (Figure 1, c-d) but with complete and long-lasting resolution of symptoms as well. KD belongs to perforating dermatoses (PD), a heterogeneous group of skin diseases characterized by the transepidermal elimination of dermal components. Despite the classification of PD being debated, four primary forms are traditionally recognized: reactive perforating collagenosis, elastosis perforans serpiginosum, perforating folliculitis, and KD (1). The typical skin manifestation of KD is an eruption of dome-shaped papules and nodules with a whitish central keratotic plug, mainly localized on the extremities and the buttocks. Described by Kyrle in 1916, KD is frequently associated with systemic diseases, especially chronic renal failure and diabetes mellitus. Other associated conditions include chronic hepatic disease, internal malignancies, and congestive heart disease (1). Despite the absence of a consensus, the control of the underlying disease remains the first therapeutic target. Both topical (keratolytics, retinoids, and corticosteroids) and systemic treatments (corticosteroid, retinoids, antibiotics, and phototherapy) have been reported to control skin manifestations (2). In our experience, NB-UVB is an effective option as first-line therapy in case of diffuse lesions, both in KD and in other PDs (3). NS is a relatively common RASopathy, an heterogenous group of genetic disease characterized by a defect of the Ras-mitogen-activated protein kinase (Ras-MAPK) pathway, with an estimated prevalence of 1/1000-2500. PTPN11 is the most frequent mutated gene, accounting for 50% of cases, but more than ten genes were identified as causing NS (4). Classical features include a distinctive facial dysmorphism, short stature, pulmonic stenosis, and other anomalies of different organs. The skin is commonly involved. Keratinization disorders and hair abnormalities such as keratosis pilaris, ulerythema ophryogenes, wavy or curly hair, and scarce scalp hair are often described. Other cutaneous signs include easy bruising, skin hyperlaxity, multiple lentigines, and café-au-lait spots (5). To the best of our knowledge, no cases of KD in patients with NS have been previously reported to date. The exact etiopathogenesis of KD is not clear, but it was hypothesized that systemic diseases, such as diabetes and chronic renal failure, can cause a deposit of substances or dermis alterations, which triggers the inflammatory process with subsequent transepidermal extrusion (1). In our patient, we ruled out all the causes commonly associated with KD. It is however possible that this manifestation could be a direct result of our patient's illness. Our patient suffered from diffuse keratosis pilaris, and one of the possible pathogenetic mechanisms of KD was theorized to be an abnormal epidermal keratinization with a secondary inflammatory dermic response (1). On the other hand, the hyperlaxity and fragility of the skin typical of NS suggest the presence of altered connective tissue, which could trigger an abnormal keratinization and, subsequently, the transepidermal extrusion, as well as perforating elastosis, and is associated with genetic connective tissue diseases (1). Moreover, our patient suffered from a cardiac disease, another condition associated with KD (5). Although these explanations have their appeal, there is currently insufficient evidence of a link between KD and NS, and it will be necessary to collect additional data to confirm this hypothesis.
Topics: Humans; Female; Noonan Syndrome; Adult; Ultraviolet Therapy; Darier Disease
PubMed: 38946190
DOI: No ID Found -
Annals of Coloproctology Jun 2024Preoperative colonoscopic (POC) localization is recommended for patients scheduled for elective laparoscopic colectomy for early colon cancer. Among the various...
PURPOSE
Preoperative colonoscopic (POC) localization is recommended for patients scheduled for elective laparoscopic colectomy for early colon cancer. Among the various localization method, POC tattooing localization has been widely used. Several dyes have been used for tattooing, but dye has disadvantages, including foreign body reactions. For this reason, we have used autologous blood tattooing for POC localization. This study aimed to evaluate the safety and efficacy of the autologous blood tattooing method.
METHODS
This study included patients who required POC localization of the colonic neoplasm among the patients who were scheduled for elective colon resection. The indication for localization was early colon cancer (clinically T1 or T2) or colonic neoplasms that could not be resected endoscopically. POC autologous blood tattooing was performed after saline injection, and 2 hemoclips were applied.
RESULTS
A total of 45 patients who underwent autologous blood tattooing and laparoscopic colectomy were included in this study. All POC localization sites were visible in the laparoscopic view. POC localization sites showed almost perfect agreement with intraoperative surgical findings. There were no complications like bowel perforation, peritonitis, hemoperitoneum, and mesenteric hematoma.
CONCLUSION
Autologous blood is a safe and effective agent for localizing materials that can replace previous dyes. However, a large prospective case-control study is required for the routine application of this procedure in early colon cancer or colonic neoplasms.
PubMed: 38946093
DOI: 10.3393/ac.2023.00059.0008 -
The Bone & Joint Journal Jul 2024Proximal humeral fractures are the third most common fracture among the elderly. Complications associated with fixation include screw perforation, varus collapse, and... (Meta-Analysis)
Meta-Analysis Comparative Study
AIMS
Proximal humeral fractures are the third most common fracture among the elderly. Complications associated with fixation include screw perforation, varus collapse, and avascular necrosis of the humeral head. To address these challenges, various augmentation techniques to increase medial column support have been developed. There are currently no recent studies that definitively establish the superiority of augmented fixation over non-augmented implants in the surgical treatment of proximal humeral fractures. The aim of this systematic review and meta-analysis was to compare the outcomes of patients who underwent locking-plate fixation with cement augmentation or bone-graft augmentation versus those who underwent locking-plate fixation without augmentation for proximal humeral fractures.
METHODS
The search was carried out according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines. Articles involving patients with complex proximal humeral fractures treated using open reduction with locking-plate fixation, with or without augmentation, were considered. A meta-analysis of comparative studies comparing locking-plate fixation with cement augmentation or with bone-graft augmentation versus locking-plate fixation without augmentation was performed.
RESULTS
A total of 19 studies were included in the qualitative synthesis, and six comparative studies were included in the meta-analysis. Overall, 120 patients received locking-plate fixation with bone-graft augmentation, 179 patients received locking-plate fixation with cement augmentation, and 336 patients received locking-plate fixation without augmentation. No statistically relevant differences between the augmented and non-augmented cohorts were found in terms of the Disabilities of the Arm, Shoulder and Hand questionnaire score and Constant-Murley Score. The cement-augmented group had a significantly lower rate of complications compared to the non-augmented group.
CONCLUSION
While locking-plate fixation with cement augmentation appears to produce a lower complication rate compared to locking-plate fixation alone, functional outcomes seem comparable between augmented and non-augmented techniques.
Topics: Humans; Bone Plates; Shoulder Fractures; Fracture Fixation, Internal; Bone Cements; Bone Transplantation; Treatment Outcome
PubMed: 38945543
DOI: 10.1302/0301-620X.106B7.BJJ-2023-1113.R1 -
Mymensingh Medical Journal : MMJ Jul 2024Soft tissue injuries of the hand or forearm often results in exposure of tendon or bone which needs coverage with a suitable flap. This prospective observational study... (Observational Study)
Observational Study
Soft tissue injuries of the hand or forearm often results in exposure of tendon or bone which needs coverage with a suitable flap. This prospective observational study was carried out in National Institute of Traumatology and Orthopaedic Rehabilitation (NITOR), Dhaka, Bangladesh from February 2019 to January 2020, to evaluate the use of the pedicled paraumbilical perforator flaps as a reliable flap to cover such defects. Total 34 patients having soft tissue defects in the hand and forearm with exposed tendons, bones or implant were included in this study. All the defects were covered by paraumbilical perforator flap. The defects were caused by road traffic accident (n=22), machinery injury (n=10) and burn injury (n=2). Sixteen patients had defects involving the forearm, six over dorsum of hand, another two over first web space and the rest had defects over two or more areas of forearm, hand and wrist. Lateral extent of flaps was upto anterior axillary line in 41.18% cases and upto mid-axillary line in 55.88% cases. Flap division and final inset was done in second stage after 3 weeks. Donor site closed primarily in all cases, except in two cases where it was covered by skin graft. All the flaps survived with no incidence of flap necrosis, dehiscence or infection after first stage. However, after the division of the flap, two patients developed marginal necrosis of the proximal margin which healed spontaneously by conservative treatment. The mean flap surface area utilized was 108 cm2. Donor area healed well without any major complications. Three patients developing scar hypertrophy were treated with intra-lesional triamcinolone injections. The paraumbilical perforator flap is a reliable option to cover soft tissue defects of hand and forearm due to easier planning and harvesting of the flap, adequate skin paddle and minimum donor site morbidity.
Topics: Humans; Perforator Flap; Male; Soft Tissue Injuries; Female; Adult; Prospective Studies; Hand Injuries; Middle Aged; Forearm; Adolescent; Forearm Injuries; Young Adult; Plastic Surgery Procedures; Child
PubMed: 38944720
DOI: No ID Found -
Computer Methods and Programs in... Jun 2024Atrial fibrillation (AF) is the most common cardiac arrhythmia, inducing accelerated and irregular beating. Beside well-known disabling symptoms - such as palpitations,...
BACKGROUND AND OBJECTIVE
Atrial fibrillation (AF) is the most common cardiac arrhythmia, inducing accelerated and irregular beating. Beside well-known disabling symptoms - such as palpitations, reduced exercise tolerance, and chest discomfort - there is growing evidence that an alteration of deep cerebral hemodynamics due to AF increases the risk of vascular dementia and cognitive impairment, even in the absence of clinical strokes. The alteration of deep cerebral circulation in AF represents one of the least investigated among the possible mechanisms. Lenticulostriate arteries (LSAs) are small perforating arteries mainly departing from the middle cerebral artery (MCA) and susceptible to small vessel disease, which is one of the mechanisms of subcortical vascular dementia development. The purpose of this study is to investigate the impact of different LSAs morphologies on the cerebral hemodynamics during AF.
METHODS
By combining a computational fluid dynamics (CFD) analysis of LSAs with 7T high-resolution magnetic resonance imaging (MRI), we performed different CFD-based multivariate regression analyses to detect which geometrical and morphological vessel features mostly affect AF hemodynamics in terms of wall shear stress. We exploited 17 cerebral 7T-MRI derived LSA vascular geometries extracted from 10 subjects and internal carotid artery data from validated 0D cardiovascular-cerebral modeling as inflow conditions.
RESULTS
Our results revealed that few geometrical variables - namely the size of the MCA and the bifurcation angles between MCA and LSA - are able to satisfactorily predict the AF impact. In particular, the present study indicates that LSA morphologies exhibiting markedly obtuse LSA-MCA inlet angles and small MCA size downstream of the LSA-MCA bifurcation may be more prone to vascular damage induced by AF.
CONCLUSIONS
The present MRI-based computational study has been able for the first time to: (i) investigate the net impact of LSAs vascular morphologies on cerebral hemodynamics during AF events; (ii) detect which combination of morphological features worsens the hemodynamic response in the presence of AF. Awaiting necessary clinical confirmation, our analysis suggests that the local hemodynamics of LSAs is affected by their geometrical features and some LSA morphologies undergo greater hemodynamic alterations in the presence of AF.
PubMed: 38943985
DOI: 10.1016/j.cmpb.2024.108303 -
Oral Oncology Jun 2024Different fibula osteocutaneous free flap (FOCFF) configurations have been described with a double-skin paddle (DSP) to address composite through-and-through...
BACKGROUND
Different fibula osteocutaneous free flap (FOCFF) configurations have been described with a double-skin paddle (DSP) to address composite through-and-through oromandibular defects: division of the skin paddle using different perforators (div-FOCFF) or a de-epithelialized DSP FOCFF (deEpi-FOCFF). This study aimed to compare the surgical outcomes using these two methods (deEpi-FOCFF/div-FOCFF).
METHODS
Patients who underwent segmental mandibulectomy and reconstruction with a DSP FOCFF between 2011 and 2014 were included. We compared postoperative outcomes of patients undergoing reconstruction with deEpi-FOCFF versus div-FOCFF implementing propensity score matching.
RESULTS
Of the 245 patients, 156 cases (78 pairs) were 1:1 matched. Demographic and oncologic variables were comparable between groups. The average age was 57.68 years. A higher number of perforators per flap was evident in the div-FOCFF group (p < 0.001). The deEpi-FOCFF group exhibited a higher total flap loss rate when compared to the div-FOCFF group (15 % versus 5 % p = 0.03). On multivariate analysis, number of perforators per flap (OR 0.31, p = 0.02), using the deEpi-FOCFF (OR 3.88, p = 0.03), and an increased reconstructive time (OR 1.01, p = 0.01) independently affected the likelihood of free flap failure.
CONCLUSION
If the number and location of perforators are optimal, div-FOCFF improves reconstructive outcomes for composite oromandibular defects versus the deEpi-FOCFF.
PubMed: 38943871
DOI: 10.1016/j.oraloncology.2024.106910 -
Journal of Medical Case Reports Jun 2024Colon volvulus is the twisting of a segment of colon on its mesenteric axis, which can lead to the obstruction of the lumen and the blood supply. Colon volvulus is...
INTRODUCTION
Colon volvulus is the twisting of a segment of colon on its mesenteric axis, which can lead to the obstruction of the lumen and the blood supply. Colon volvulus is common in "volvulus belt" countries and can involve the sigmoid (60-70%) and cecum (25-40%).
CASE PRESENTATION
We report a case of a 47-year-old male, Alawites, who presented with bowel obstruction and dilated abdomen without any specific abdominal pain. Abdominal laparotomy showed both sigmoid and cecum volvulus with no signs of perforation or ischemia.
DISCUSSION AND CONCLUSION
One of the possible risk factors of sigmoid colon volvulus is the length of the rectum and sigmoid, while mobile cecum is considered as a possible reason for cecum volvulus. The management remains controversial and is specific for every case, depending mainly on the vitality of the colonic walls and the general condition of the patient.
Topics: Humans; Intestinal Volvulus; Male; Middle Aged; Colon, Sigmoid; Cecal Diseases; Sigmoid Diseases; Intestinal Obstruction; Cecum; Laparotomy; Treatment Outcome
PubMed: 38943209
DOI: 10.1186/s13256-024-04622-z -
Surgical and Radiologic Anatomy : SRA Jun 2024The incidence of osteoporotic pelvic fractures is increasing. The broken anterior pelvic ring is preferentially fixed with long intramedullary screws, which require a...
INTRODUCTION
The incidence of osteoporotic pelvic fractures is increasing. The broken anterior pelvic ring is preferentially fixed with long intramedullary screws, which require a good understanding of the patient-specific anatomy to prevent joint perforation. The aim of this study was to assess the variability of the superior pubic ramus and the supra acetabular corridors' length and width using statistical shape modelling.
MATERIALS AND METHODS
A male and female statistical shape model was made based on 59 forensic CT scans. For the superior pubic ramus and the supra acetabular corridor the longest and widest completely fitting cylinder was created for the first 5 principal components (PC) of both models, male and female pelvises separately.
RESULTS
A total of 59 pelvises were included in this study of which 36 male and 23 female. The first 5 principal components explained 75% and 79% of the pelvic variation in males and females, respectively. Within 3 PCs of the female statistical shape model (SSM) a superior pubic ramus corridor of < 7.3 mm was found, 5.5 mm being the narrowest linear corridor measured. Both corridors in all PCs of the male SSM measured > 7.3 mm.
CONCLUSION
Within females a 7.3 mm and 6.5 mm screw won't always fit in the superior pubic ramus corridor, especially if a flat sacrum, a small pelvis or a wide subpubic angle are present. The supra acetabular corridor did not seem to have sex-specific differences. In the supra-acetabular corridor there was always enough space to accommodate a 7.3 mm screw, both in males and females.
PubMed: 38942934
DOI: 10.1007/s00276-024-03420-y -
Endoscopy Jun 2024Introduction The role of endoscopic submucosal dissection (ESD) in the treatment of Barrett's associated neoplasia (BEN) has been evolving. We examined the efficacy and...
Introduction The role of endoscopic submucosal dissection (ESD) in the treatment of Barrett's associated neoplasia (BEN) has been evolving. We examined the efficacy and safety of ESD and EMR for BEN. Methods A database search was performed for studies reporting efficacy and safety outcomes of ESD and EMR for BEN. Pooled proportional and comparative meta-analyses were performed. Results 47 studies (23 ESD, 19 EMR, and 5 comparative) were included. Mean lesion size for ESD and EMR were 22.5 mm and 15.8 mm respectively. Majority of lesions were Paris type IIa. Pooled analysis for ESD showed en-bloc resection, R0 resection, curative resection, and local recurrence rates of 98%, 78%, 65%, and 2%, respectively. Complete eradication of dysplasia (CE-D) and complete eradication of intestinal metaplasia (CE-IM) were achieved in 94% and 59% of cases. Pooled rates of perforation, intraprocedural bleeding (IPB), delayed bleeding (DB), and stricture were 1%, 1%, 2%, and 10%, respectively. Pooled analysis for EMR showed en-bloc resection, R0 resection, curative resection, and local recurrence rates of 37%, 67%, 62%, and 6%, respectively. CE-D and CE-IM were achieved in 94% and 76% of cases. Pooled rates of perforation, IPB, DB, and stricture were 0.1%, 1%, 0.4%, and 7.7%, respectively. The mean procedure time for ESD and EMR were 111.3 and 22.3 mins respectively. Comparative analysis showed higher en-bloc and R0 resection rates with ESD compared to EMR, with comparable adverse events. Conclusion ESD and EMR both can be employed to treat BEN depending on the lesion type, size, and expertise.
PubMed: 38942058
DOI: 10.1055/a-2357-6111 -
British Journal of Hospital Medicine... Jun 2024Systemic lupus erythematosus (SLE) is a complex autoimmune disease where the body loses tolerance to its own antigens, particularly nuclear antigens. Abnormal responses...
Systemic lupus erythematosus (SLE) is a complex autoimmune disease where the body loses tolerance to its own antigens, particularly nuclear antigens. Abnormal responses from T and B cells lead to the production of autoantibodies and the formation of immune complexes in tissues, triggering complement activation, inflammation, and irreversible organ damage. SLE can affect any part of the body, resulting in diverse clinical symptoms. One rare manifestation of SLE is lupus mesenteric vasculitis (LMV), which presents with vague symptoms, abnormal laboratory findings, and specific imaging features. LMV, although uncommon, can progress to severe complications such as bowel perforation, haemorrhage, and even mortality. Here, we report a case of LMV with the involvement of multiple organ systems (including mucocutaneous, musculoskeletal, serosal cavities, and haematological systems), presenting initially with life-threatening intractable gastrointestinal bleeding, and complicated by severe pulmonary infection. By sharing this case, we aim to enhance clinicians' confidence in managing critical SLE cases and raise awareness about disease surveillance.
Topics: Humans; Gastrointestinal Hemorrhage; Lupus Erythematosus, Systemic; Vasculitis; Female; Mesentery; Tomography, X-Ray Computed; Adult
PubMed: 38941968
DOI: 10.12968/hmed.2024.0108