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1.
World J Gastroenterol ; 30(12): 1651-1654, 2024 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-38617744

RESUMO

Crohn's disease (CD) is a chronic inflammatory disease of the digestive tract. The incidence of pediatric CD is increasing and is currently 2.5-11.4 per 100000 world-wide. Notably, approximately 25% of children with CD develop stricturing CD (SCD) that requires intervention. Symptomatic stricturing diseases refractory to pharmacological management frequently require non-pharmacological interventions. Non-pharmacological therapeutic strategies include endoscopic balloon dilatation, stricturoplasty, and surgical resection of the strictured segment. However, strictures tend to recur postoperatively regardless of treatment modality. The lifetime risk of surgery in patients with childhood SCD remains at 50%-90%. Thus, new and emerging strategies, advanced diagnostic tools, and minimally invasive approaches are under investigation to improve the outcomes and overall quality of life of pediatric patients with SCD.


Assuntos
Doença de Crohn , Humanos , Criança , Doença de Crohn/diagnóstico , Doença de Crohn/epidemiologia , Doença de Crohn/terapia , Constrição Patológica , Qualidade de Vida
2.
Sci Rep ; 14(1): 8630, 2024 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-38622211

RESUMO

Glycogen storage disease type Ib (GSD-Ib) is a rare inborn error of glycogen metabolism caused by mutations in SLC37A4. Patients with GSD-Ib are at high risk of developing inflammatory bowel disease (IBD). We evaluated the efficacy of empagliflozin, a renal sodium‒glucose cotransporter protein 2 (SGLT2) inhibitor, on colonic mucosal healing in patients with GSD-associated IBD. A prospective, single-arm, open-label clinical trial enrolled eight patients with GSD-associated IBD from Guangdong Provincial People's Hospital in China from July 1, 2022 through December 31, 2023. Eight patients were enrolled with a mean age of 10.34 ± 2.61 years. Four male and four female. The endoscopic features included deep and large circular ulcers, inflammatory hyperplasia, obstruction and stenosis. The SES-CD score significantly decreased at week 48 compared with before empagliflozin. Six patients completed 48 weeks of empagliflozin therapy and endoscopy showed significant improvement or healing of mucosal ulcers, inflammatory hyperplasia, stenosis, and obstruction. One patient had severe sweating that required rehydration and developed a urinary tract infection. No serious or life-threatening adverse events. This study suggested that empagliflozin may promote colonic mucosal healing and reduce hyperplasia, stenosis, and obstruction in children with GSD-associated IBD.


Assuntos
Compostos Benzidrílicos , Glucosídeos , Doença de Depósito de Glicogênio Tipo I , Doenças Inflamatórias Intestinais , Criança , Humanos , Masculino , Feminino , Adolescente , Constrição Patológica/complicações , Úlcera , Hiperplasia , Estudos Prospectivos , Doenças Inflamatórias Intestinais/complicações , Doenças Inflamatórias Intestinais/tratamento farmacológico , Doenças Inflamatórias Intestinais/genética , Doença de Depósito de Glicogênio Tipo I/complicações , Doença de Depósito de Glicogênio Tipo I/tratamento farmacológico , Doença de Depósito de Glicogênio Tipo I/genética , Proteínas de Transporte de Monossacarídeos/genética , Antiporters/genética
3.
Pediatr Transplant ; 28(3): e14727, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38613151

RESUMO

BACKGROUND: Biliary strictures are a significant cause of morbidity and graft loss in pediatric liver transplant recipients. Risk factors for the development of biliary strictures are not fully established. We aimed to evaluate the incidence of biliary strictures and treatment modalities outcomes and to identify potential risk factors for occurrence. METHODS: Pediatric patients who underwent liver transplantation in the single tertiary pediatric liver transplant center in Israel were evaluated. We compared demographics, presentation, laboratory results, imaging, treatment, and outcomes between patients with and without biliary stricture. Multivariate regression analyses were used to identify risk factors for biliary strictures. RESULTS: Among 121 pediatric liver transplant patients, 65 (53.7%) were males; the median age at the time of liver transplantation was 43 (3-215) months. Fifteen patients (12.4%) had biliary strictures following transplantation. One (7%) patient with biliary stricture was treated via endoscopic retrograde cholangiopancreatography, and 12 patients (80%) underwent interventions via a percutaneous transhepatic approach. Nine of the 12 patients were treated successfully, requiring one or multiple procedures, while the remaining had surgery or laser therapy. Risk factors for the development of biliary strictures were biliary leak, acute cellular rejection, and the presence of two biliary anastomoses. CONCLUSIONS: In our cohort, the presence of two biliary anastomoses and post-transplant complications including acute cellular rejection and early biliary leaks were associated with biliary strictures in pediatric liver transplantation recipients. Percutaneous transhepatic interventions result in good outcomes in most patients.


Assuntos
Transplante de Fígado , Masculino , Humanos , Criança , Pré-Escolar , Feminino , Transplante de Fígado/efeitos adversos , Constrição Patológica/epidemiologia , Constrição Patológica/etiologia , Constrição Patológica/terapia , Incidência , Fatores de Risco , Encaminhamento e Consulta
4.
World J Urol ; 42(1): 234, 2024 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-38613692

RESUMO

PURPOSE: We aimed to accurately determine ureteral stricture (US) rates following urolithiasis treatments and their related risk factors. METHODS: We conducted a systematic review and meta-analysis following the PRISMA guidelines using databases from inception to November 2023. Studies were deemed eligible for analysis if they included ≥ 18 years old patients with urinary lithiasis (Patients) who were subjected to endoscopic treatment (Intervention) with ureteroscopy (URS), percutaneous nephrolithotomy (PCNL), or shock wave lithotripsy (SWL) (Comparator) to assess the incidence of US (Outcome) in prospective and retrospective studies (Study design). RESULTS: A total of 43 studies were included. The pooled US rate was 1.3% post-SWL and 2.1% post-PCNL. The pooled rate of US post-URS was 1.9% but raised to 2.7% considering the last five years' studies and 4.9% if the stone was impacted. Moreover, the pooled US rate differed if follow-ups were under or over six months. Patients with proximal ureteral stone, preoperative hydronephrosis, intraoperative ureteral perforation, and impacted stones showed higher US risk post-endoscopic intervention with odds ratio of 1.6 (P = 0.05), 2.6 (P = 0.009), 7.1 (P < 0.001), and 7.47 (P = 0.003), respectively. CONCLUSIONS: The overall US rate ranges from 0.3 to 4.9%, with an increasing trend in the last few years. It is influenced by type of treatment, stone location and impaction, preoperative hydronephrosis and intraoperative perforation. Future standardized reporting and prospective and more extended follow-up studies might contribute to a better understanding of US risks related to calculi treatment.


Assuntos
Hidronefrose , Cálculos Ureterais , Urolitíase , Humanos , Adolescente , Constrição Patológica , Estudos Prospectivos , Estudos Retrospectivos , Urolitíase/cirurgia , Ureteroscopia/efeitos adversos , Cálculos Ureterais/cirurgia
5.
BMC Pediatr ; 24(1): 250, 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38605324

RESUMO

OBJECTIVE: There are no clear evidence-based recommendations concerning when patients with prenatally diagnosed choledochal cysts (CCs) should undergo surgery. This study was primarily designed to explore the proper timing of minimally invasive surgery for prenatally diagnosed CC patients. METHODS: Seventy-three patients with prenatally diagnosed CC were enrolled in this study and divided into 4 subgroups according to age at surgery (15 patients in the < 1 month group, 27 in the 1-2 months group, 14 in the 2-3 months group and 17 in the > 3 months group). Eighty-five healthy infants were recruited and divided into 4 age groups (29 in the < 1 month group, 20 in the 1-2 month group, 19 in the 2-3 month group and 17 in the > 3 month group). Preoperative data were collected and compared between CC patients and healthy controls in 4 age groups. Additionally, 73 patients were divided into laparoscopic and open groups to compare postoperative recovery indices and the occurrence of complications to determine the safety and feasibility of laparoscopic CC application in neonates and young infants. RESULTS: Twenty-one of 73 (28.8%) patients who were prenatally diagnosed with CCs experienced various clinical symptoms, and 15 of 21 (71.4%) patients experienced clinical symptoms less than 2 months after birth. No differences were found in alanine transaminase (ALT), aspartate transaminase (AST) or aspartate transaminase (APRI) levels between CC patients and controls at ≤ 1 month or 1-2 months of age (all p > 0.05), while higher levels were found in CC patients at 2-3 months or > 3 months of age (all p < 0.05). ALT, AST and DBIL levels 1 week after surgery were significantly lower than those before surgery in CC patients who underwent laparoscopic CC excision at > 2 months of age, while DBIL levels 1 week after surgery were also significantly lower than those before surgery in patients who underwent CC excision at ≤ 2 months of age. The initial oral feeding time in the laparoscopic surgery group was significantly earlier than that in the open surgery group for both CC patients who underwent CC excision at ≤ 2 months of age and those > 2 months of age (all p < 0.05). No differences were found in the rates of anastomotic leakage or stricture formation between the laparoscopic and open surgery groups at ≤ 2 months or > 2 months of age. CONCLUSION: Most clinical symptoms attributed to CC occur less than 2 months after birth, while liver function and liver fibrosis may deteriorate after 2 months of age in patients with prenatally diagnosed CC. Laparoscopic surgery for CC in newborns and young infants (either less than or more than 2 months old) is safe and feasible and can shorten the initial oral feeding time without increasing complications such as postoperative anastomotic leakage or stricture. Thus, performing laparoscopic CC excisions within 2 months after birth in patients with prenatally diagnosed CC may be appropriate.


Assuntos
Cisto do Colédoco , Laparoscopia , Lactente , Humanos , Recém-Nascido , Cisto do Colédoco/diagnóstico por imagem , Cisto do Colédoco/cirurgia , Fístula Anastomótica , Constrição Patológica/cirurgia , Complicações Pós-Operatórias/epidemiologia , Aspartato Aminotransferases , Estudos Retrospectivos
6.
J Robot Surg ; 18(1): 156, 2024 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-38565813

RESUMO

Rectal cancer surgery represents challenges due to its location. To overcome them and minimize the risk of anastomosis-related complications, some technical maneuvers or even a diverting ileostomy may be required. One of these technical steps is the mobilization of the splenic flexure (SFM), especially in medium/low rectal cancer. High-tie vascular ligation may be another one. However, the need of these maneuvers may be controversial, as especially SFM may be time-consuming and increase the risk of iatrogenic. The objective is to present the short- and long-term outcomes of a low-tie ligation combined with no SFM in robotic low anterior resection (LAR) for mid- and low rectal cancer as a standardized technique. A retrospective observational single-cohort study was carried out at Reina Sofia University Hospital, Cordoba, Spain. 221 robotic rectal resections between Jul-18th-2018 and Jan-12th-2023 were initially considered. After case selection, 80 consecutive robotic LAR performed by a single surgeon were included. STROBE checklist assessed the methodological quality. Histopathological, morbidity and oncological outcomes were assessed. Anastomotic stricture occurrence and distance to anal verge were evaluated after LAR by rectosigmoidoscopy. Variables related to the ileostomy closure such as time to closure, post-operative complications or hospital stay were also considered. The majority of patients (81.2%) presented a mid-rectal cancer and the rest, lower location (18.8%). All patients had adequate perfusion of the anastomotic stump assessed by indocyanine green. Complete total mesorectal excision was performed in 98.8% of the patients with a lymph node ratio < 0.2 in 91.3%. The anastomotic leakage rate was 5%. One patient (1.5%) presented local recurrence. Anastomosis stricture occurred in 7.5% of the patients. The limitations were small cohort and retrospective design. The non-mobilization of the splenic flexure with a low-tie ligation in robotic LAR is a feasible and safe procedure that does not affect oncological outcomes.


Assuntos
Colo Transverso , Laparoscopia , Neoplasias Retais , Procedimentos Cirúrgicos Robóticos , Humanos , Anastomose Cirúrgica/efeitos adversos , Anastomose Cirúrgica/métodos , Estudos de Coortes , Colo Transverso/cirurgia , Constrição Patológica/cirurgia , Laparoscopia/métodos , Neoplasias Retais/cirurgia , Estudos Retrospectivos , Procedimentos Cirúrgicos Robóticos/métodos
7.
Ann Card Anaesth ; 27(2): 159-161, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38607880

RESUMO

ABSTRACT: The elephant trunk procedure, an endovascular strategy for retrograde type A acute aortic dissection, is associated with several complications, hemolytic anemia being a rare one. We performed endovascular stent-graft insertion in a patient who developed hemolytic anemia. Transesophageal echocardiography (TEE) detected turbulent jet flow and stenosis position, which was not detected by angiography and intravascular ultrasound (IVUS). This imaging technique proved effective for malperfusion diagnosis and enabled us to confirm its resolution after the endovascular procedure. Intraoperative TEE is a useful adjunct to angiography and IVUS for diagnosis and therapeutic assessment during endovascular repair of a stenosed elephant trunk.


Assuntos
Anemia Hemolítica , Dissecção Aórtica , Humanos , Ecocardiografia Transesofagiana , Aorta Torácica/diagnóstico por imagem , Aorta Torácica/cirurgia , Ecocardiografia , Angiografia , Dissecção Aórtica/diagnóstico por imagem , Dissecção Aórtica/cirurgia , Constrição Patológica
8.
J Orthop Surg Res ; 19(1): 216, 2024 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-38566125

RESUMO

PURPOSE: To analyze and study the clinical efficacy and imaging indexes of oblique lateral lumbar interbody fusion (OLIF) in the treatment of lumbar intervertebral foramen stenosis(LFS) caused by different causes. METHOD: 33 patients with LFS treated with OLIF from January 2018 to May 2022 were reviewed. Oswestry Dysfunction Index (ODI) and visual analogue scale (VAS) were calculated before and after operation. Segmental lordotic angle (SLA), lumbar lordotic angle (LLA) and segmental scoliosis angle (SSA), disc height (DH), posterior disc height (PDH), lateral disc height (LDH), foraminal height (FH), foramen width (FW) and foraminal cross-sectional area (FSCA) were measured before and after operation. RESULT: The VAS and ODI after operation were significantly improved as compared with those before operation. Compared with pre-operation, the DH, PHD increased by 67.6%, 94.6%, LDH increased by 107.4% (left), 101.7% (right), and FH increased by 30.2% (left), 34.5% (right). The FSCA increased by 93.1% (left), 89.0% (right), and the FW increased by 137.0% (left), 149.6% (right). The postoperative SSA was corrected by 74.5%, the postoperative SLA, LLA were corrected by 70.2%, 38.1%, respectively. All the imaging indexes were significantly improved (p < 0.01). CONCLUSION: The clinical efficacy and imaging data of OLIF in the treatment of LFS caused by low and moderate lumbar spondylolisthesis, intervertebral disc bulge and reduced intervertebral space height, degenerative lumbar scoliosis, articular process hyperplasia or dislocation have been well improved. OLIF may be one of the better surgical treatments for LFS caused by the above conditions.


Assuntos
Lordose , Escoliose , Fusão Vertebral , Humanos , Escoliose/diagnóstico por imagem , Escoliose/cirurgia , Escoliose/etiologia , Constrição Patológica , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Lordose/etiologia , Fusão Vertebral/métodos
9.
Mayo Clin Proc ; 99(4): 640-648, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38569813

RESUMO

Eosinophilic esophagitis (EoE) is a chronic and progressive immune-mediated esophageal disorder. Given its increasing incidence, it is now a leading cause of dysphagia and food impaction in the United States. Eosinophilic esophagitis is most common in adult White men and has a high concurrence rate with other atopic conditions like allergic rhinitis, bronchial asthma, and eczema. The initial presentation includes symptoms of esophageal dysfunction, classically solid-food dysphagia. Without treatment, inflammation can progress to fibrosis with the formation of strictures, leading to complications such as food impaction. It is a clinicopathologic disease requiring compatible clinical symptoms and histologic evidence of eosinophil-predominant inflammation of the esophageal epithelium with more than 15 eosinophils per high-power field. The mainstay of management includes the 3 d's (diet, drugs, dilation): dietary modifications to eliminate trigger food groups; medications including proton pump inhibitors, swallowed topical glucocorticoids, and dupilumab; and esophageal dilation to manage strictures. Various elimination diets have been found to be effective, including 1-food, 2-food, 4-food, and 6-food elimination diets. Dupilumab, a humanized monoclonal antibody that regulates interleukin 4 and 13 signaling pathways, has shown promising results in clinical trials and was approved by the Food and Drug Administration in 2022 for use in EoE. Symptom alleviation, although important, is not the sole end point of treatment in EoE as persistent inflammation, even in the absence of symptoms, can lead to esophageal fibrosis and stricture formation over time. The chronic nature and high recurrence rates of EoE warrant maintenance therapy in patients with EoE after initial remission is achieved.


Assuntos
Transtornos de Deglutição , Esofagite Eosinofílica , Gastroenterologistas , Masculino , Adulto , Humanos , Esofagite Eosinofílica/diagnóstico , Esofagite Eosinofílica/terapia , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/terapia , Constrição Patológica/complicações , Constrição Patológica/tratamento farmacológico , Inflamação/tratamento farmacológico , Fibrose , Atenção Primária à Saúde , Inibidores da Bomba de Prótons/uso terapêutico
10.
Radiol Cardiothorac Imaging ; 6(2): e230073, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38573127

RESUMO

Purpose This special report outlines a retrospective observational study of CT fractional flow reserve (CT-FFR) analysis using dual-source coronary CT angiography (CTA) scans performed without heart rate control and its impact on clinical outcomes. Materials and Methods All patients who underwent clinically indicated coronary CTA between August 2020 and August 2021 were included in this retrospective observational study. Scans were performed in the late systolic to early diastolic period without heart rate control and analyzed at the interpreting physician's discretion. Demographics, coronary CTA features, and rates of invasive coronary angiography (ICA), percutaneous coronary intervention (PCI), myocardial infarction, and all-cause death at 3 months were assessed by chart review. Results During the study period, 3098 patients underwent coronary CTA, of whom 113 with coronary bypass grafting were excluded. Of the remaining 2985 patients, 292 (9.7%) were referred for CT-FFR analysis. Two studies (0.7%) were rejected from CT-FFR analysis, and six (2.1%) analyses did not evaluate the lesion of concern. A total of 160 patients (56.3%) had CT-FFR greater than 0.80. Among patients with significant stenosis at coronary CTA, patients who underwent CT-FFR analysis presented with lower rates of ICA (74.5% vs 25.5%, P = .04) and PCI (78.9% vs 21.1%, P = .05). Conclusion CT-FFR was implemented in patients not requiring heart rate control by using dual-source coronary CTA acquisition and showed the potential to decrease rates of ICA and PCI without compromising safety in patients with significant stenosis and an average heart rate of 65 beats per minute. Keywords: Angiography, CT, CT-Angiography, Fractional Flow Reserve, Cardiac, Heart, Arteriosclerosis Supplemental material is available for this article. © RSNA, 2024.


Assuntos
Besouros , Reserva Fracionada de Fluxo Miocárdico , Intervenção Coronária Percutânea , Humanos , Animais , Constrição Patológica , Centros Médicos Acadêmicos , Tomografia Computadorizada por Raios X
11.
World Neurosurg ; 184: 361-371, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38590070

RESUMO

Venous sinus stenosis has garnered increasing academic attention as a potential etiology of idiopathic intracranial hypertension (IIH) and pulsatile tinnitus (PT). The complex anatomy of the cerebral venous sinuses and veins plays a crucial role in the pathophysiology of these conditions. Venous sinus stenosis, often found in the superior sagittal or transverse sinus, can lead to elevated intracranial pressure (ICP) and characteristic IIH symptoms. Stenosis, variations in dural venous anatomy, and flow dominance patterns contribute to aberrant flow and subsequent PT. Accurate imaging plays a vital role in diagnosis, and magnetic resonance (MR) venography is particularly useful for detecting stenosis. Management strategies for IIH and PT focus on treating the underlying disease, weight management, medical interventions, and, in severe cases, surgical or endovascular procedures. Recently, venous sinus stenting has gained interest as a minimally invasive treatment option for IIH and PT. Stenting addresses venous sinus stenosis, breaking the feedback loop between elevated ICP and stenosis, thus reducing ICP and promoting cerebrospinal fluid outflow. The correction and resolution of flow aberrances can also mitigate or resolve PT symptoms. While venous sinus stenting remains an emerging field, initial results are promising. Further research is needed to refine patient selection criteria and evaluate the long-term efficacy of stenting as compared to traditional treatments.


Assuntos
Hipertensão Intracraniana , Pseudotumor Cerebral , Zumbido , Humanos , Pseudotumor Cerebral/complicações , Pseudotumor Cerebral/diagnóstico , Pseudotumor Cerebral/cirurgia , Zumbido/diagnóstico , Zumbido/etiologia , Zumbido/terapia , Constrição Patológica/complicações , Constrição Patológica/diagnóstico por imagem , Constrição Patológica/cirurgia , Hipertensão Intracraniana/complicações , Hipertensão Intracraniana/diagnóstico , Cavidades Cranianas/diagnóstico por imagem , Cavidades Cranianas/cirurgia , Stents/efeitos adversos
12.
World Neurosurg ; 184: 372-386, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38590071

RESUMO

Although numerous case series and meta-analyses have shown the efficacy of venous sinus stenting (VSS) in the treatment of idiopathic intracranial hypertension and idiopathic intracranial hypertension-associated pulsatile tinnitus, there remain numerous challenges to be resolved. There is no widespread agreement on candidacy; pressure gradient and failed medical treatment are common indications, but not all clinicians require medical refractoriness as a criterion. Venous manometry, venography, and cerebral angiography are essential tools for patient assessment, but again disagreements exist regarding the best, or most appropriate, diagnostic imaging choice. Challenges with the VSS technique also exist, such as stent choice and deployment. There are considerations regarding postprocedural balloon angioplasty and pharmacologic treatment, but there is insufficient evidence to formalize postoperative decision making. Although complications of VSS are relatively rare, they include in-stent stenosis, hemorrhage, and subdural hematoma, and the learning curve for VSS presents specific challenges in navigating venous anatomy, emphasizing the need for wider availability of high-quality training. Recurrence of symptoms, particularly stent-adjacent stenosis, poses challenges, and although restenting and cerebrospinal fluid-diverting procedures are options, there is a need for clearer criteria for retreatment strategies. Despite these challenges, when comparing VSS with traditional cerebrospinal fluid-diverting procedures, VSS emerges as a favorable option, with strong clinical outcomes, lower complication rates, and cost-effectiveness. Further research is necessary to refine techniques and indications and address specific aspects of VSS to overcome these challenges.


Assuntos
Hipertensão Intracraniana , Pseudotumor Cerebral , Zumbido , Humanos , Pseudotumor Cerebral/complicações , Pseudotumor Cerebral/diagnóstico por imagem , Pseudotumor Cerebral/cirurgia , Zumbido/etiologia , Zumbido/cirurgia , Constrição Patológica/diagnóstico por imagem , Constrição Patológica/cirurgia , Constrição Patológica/complicações , Cavidades Cranianas/diagnóstico por imagem , Cavidades Cranianas/cirurgia , Stents/efeitos adversos , Hipertensão Intracraniana/cirurgia , Hipertensão Intracraniana/complicações , Resultado do Tratamento , Estudos Retrospectivos
13.
Front Endocrinol (Lausanne) ; 15: 1323722, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38590821

RESUMO

Background: The triglyceride glucose (TyG) index is an effective method for determining insulin resistance (IR). Limited research has explored the connection between the TyG index and functionally significant stenosis in hypertensive patients. Furthermore, the connections between the TyG index, fat attenuation index (FAI) and atherosclerotic plaque characteristics are also worth exploring. Methods: The study screened 1622 hypertensive participants without coronary artery disease history who underwent coronary computed tomography angiography. The TyG index was calculated as ln (fasting glucose [mg/dL] * fasting TG [mg/dL]/2). Adverse plaque characteristics (HRPCs), high-risk plaques (HRPs), FAI, and CT-derived fractional flow reserve (FFRCT) were analyzed and measured for all patients. Functionally significant stenosis causing ischemia is defined as FFRCT ≤ 0.80. Two patient groups were created based on the FFRCT: the FFRCT < 0.80 group and the FFRCT > 0.80 group. In hypertensive patients, the association between the TyG index and FFRCT was examined applying a logistic regression model. Results: The TyG index was higher for people with FFRCT ≤ 0.80 contrast to those with FFRCT > 0.80. After controlling for additional confounding factors, the logistic regression model revealed a clear connection between the TyG index and FFRCT ≤ 0.80 (OR = 1.718, 95% CI 1.097-2.690, p = 0.018). The restricted cubic spline analysis displayed a nonlinear connection between the TyG index and FFRCT ≤ 0.80 (p for nonlinear = 0.001). The TyG index increased the fraction of individuals with HRPs and HRPCs, FAI raised, and FFRCT decreased (p < 0.05). The multivariate linear regression analysis illustrated a powerfulcorrelation between high TyG index levels and FAI, FFRCT, positive remodeling (PR), and low-attenuation plaque (LAPs) (standardized regression coefficients: 0.029 [p = 0.007], -0.051 [p < 0.001], 0.029 [p = 0.027], and 0.026 [p = 0.046], separately). Conclusion: In hypertensive patients, the TyG index showed an excellent association with a risk of FFRCT ≤ 0.80. Additionally, the TyG index was also linked to FAI, FFRCT, PR, and LAPs.


Assuntos
Estenose Coronária , Reserva Fracionada de Fluxo Miocárdico , Placa Aterosclerótica , Humanos , Glucose , Constrição Patológica/complicações , Triglicerídeos , Angiografia Coronária/métodos , Estenose Coronária/diagnóstico por imagem , Estenose Coronária/complicações , Placa Aterosclerótica/complicações
14.
Mol Genet Genomic Med ; 12(4): e2433, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38591167

RESUMO

BACKGROUND: Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare inherited disorder characterized by proportionate short stature, skeletal defects, ocular and dental abnormalities, and transient hypocalcemia. It is caused by variants in FAM111A gene. Diagnosis of KCS2 can be challenging because of its similarities to other syndromes, the absence of clear hallmarks and the deficient number of genetically confirmed cases. Here, we aimed to further delineate and summarize the genotype and phenotype of KCS2, in order to get a better understanding of this rare disorder, and promote early diagnosis and intervention. METHODS: We present clinical and genetic characteristics of eight newly affected individuals with KCS2 from six families, including one family with three individuals found to be a father-to-daughter transmission, adding to the limited literature. Furthermore, we performed a review of genetically confirmed KCS2 cases in PubMed, MEDLINE and CNKI databases. RESULTS: There were six females and two males in our cohort. All the patients presented with short stature (100.0%). Clinical manifestations included ocular defects such as hypermetropia (5/8), dental problems such as defective dentition (3/8) and dental caries (3/8), skeletal and brain anomalies such as delayed closure of anterior fontanelle (6/8), cerebral calcification (3/8), cortical thickening (3/8) and medullary stenosis (4/8) of tubular bones. Endocrinologic abnormalities included hypoparathyroidism (5/8) and hypocalcemia (3/8). One male patient had micropenis and microorchidism. All cases harboured missense variants of FAM111A, and nucleotides c.1706 arose as a mutational hotspot, with seven individuals harbouring a c.1706G>A (p.Arg569His) variant, and one child harbouring a c.1531T>C (p.Tyr511His) variant. Literature review yielded a total of 46 patients from 20 papers. Data analysis showed that short stature, hypoparathyroidism and hypocalcemia, ocular and dental defects, skeletal features including cortical thickening and medullary stenosis of tubular bones, and seizures/spasms were present in more than 70% of the reported KCS2 cases. CONCLUSION: We provide detailed characteristics of the largest KCS2 group in China and present the first genetically confirmed instance of father-to-daughter transmission of KCS2. Our study confirms that Arg569His is the hot spot variant and summarizes the typical phenotypes of KCS2, which would help early diagnosis and intervention.


Assuntos
Cárie Dentária , Nanismo , Hiperostose Cortical Congênita , Hipocalcemia , Hipoparatireoidismo , Criança , Feminino , Humanos , Masculino , Hipocalcemia/genética , Constrição Patológica , Fenótipo , Genótipo , Hipoparatireoidismo/genética
15.
Vasc Health Risk Manag ; 20: 157-166, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38595828

RESUMO

Background: Despite the fact that patients with rheumatic heart disease (RHD) need early medical attention and follow-up, most patients in developing countries tend to present with debilitating complications. The objective of this study was to evaluate the echocardiographic features of adult individuals diagnosed with RHD and examine the associated complications among patients who started follow-up at Jimma Medical Center's (JMC) cardiac follow-up clinic. Methods: A prospective cross-sectional study was conducted at JMC between January 5 and April 15, 2023. Echocardiographic patterns were taken by senior cardiologists; socio-demographic variables, anthropometric measurements, and behavioral factors were collected through a structured questioner. Results: The study recruited a total of 115 participants, of whom 86 (74.8%) were female and 29 (25.2%) were male. The mean age of the patients was 32.31 (SD± 12.16) years. The mitral valve was affected in 98.26% of cases, while the aortic and tricuspid valve abnormalities were diagnosed in 49.5% and 21.7%, respectively. The most frequent combinations of valve lesions were mitral regurgitation (MR) + mitral stenosis (MS) + aortic regurgitation (AR) (15.7%), followed by MR + AR + TR (8.7%). The occurrence of MR+MS+AR was higher in females (17.4%) compared to males (10.3%), whereas the occurrence of MS+MR was higher in males (24.1%) compared to females (20.9%). Females have a severely reduced ejection fraction compared to males (84.8% vs 15.2%, P = 0.044). Nearly two-thirds (63.5%) of individuals experienced RHD-related complications; the most commonly encountered complications were pulmonary hypertension (26.1%) and atrial fibrillation (19.1%). Conclusion: RHD predominantly affects individuals in their active and productive years, particularly females. Most patients have multiple-valve lesions.


Assuntos
Cardiopatia Reumática , Adulto , Humanos , Masculino , Feminino , Cardiopatia Reumática/diagnóstico por imagem , Cardiopatia Reumática/epidemiologia , Cardiopatia Reumática/complicações , Estudos Transversais , Estudos Prospectivos , Ecocardiografia , Valva Mitral , Constrição Patológica/complicações
16.
World J Urol ; 42(1): 228, 2024 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-38598022

RESUMO

PURPOSE: Commercial double J stents (DJS) have a uniform shape regardless of the specific nature of various ureteral diseases. We tested renovated DJS and compared them with conventional DJS using ureter models. METHODS: One straight ureter model included stenosis at the distal ureter near the ureterovesical junction and the other did not. We used conventional DJS and renovated 5- and 6-Fr soft DJS for ureter stones and 6-, 7-, and 8.5-Fr hard DJS for tumors. The DJS comprised holes in the upper, middle, or lower one-third of the shaft (length, 24 cm; 2-cm-diameter coils at both ends). More holes were created along the shaft based on the ureteral disease location. Conventional DJS had holes spaced 1 cm apart along the shaft. Renovated DJS had holes spaced 1 cm apart along the shaft with 0.5-cm intervals on the upper, middle, or lower one-third of the shaft. Urine flow was evaluated. RESULTS: As the DJS diameter increased, the flow rate decreased. The flow rates of DJS with holes in the lower shaft were relatively lower than those of conventional DJS and DJS with holes in the upper and middle shafts. In the ureter model without stenosis, 6-, 7-, and 8.5-Fr renovated stents exhibited significantly higher flow rates than conventional stents. In the ureter model with stenosis, 5-, 6-, 7-, and 8.5-Fr renovated stents did not exhibit significantly higher flow rates than conventional stents. CONCLUSION: Renovated stents and conventional stents did not exhibit significant differences in urine flow with stenosis.


Assuntos
Ureter , Ureterolitíase , Humanos , Ureter/cirurgia , Constrição Patológica , Stents
18.
BMC Ophthalmol ; 24(1): 156, 2024 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-38594643

RESUMO

BACKGROUND: This research investigates the correlation between the severity of internal carotid artery (ICA) stenosis and retinal parameters in patients with proliferative diabetic retinopathy (PDR), aiming to uncover potential risk factors. METHODS: A retrospective analysis of 68 patients (136 eyes) diagnosed with bilateral PDR from January 1, 2017, to December 31, 2021, was conducted. Carotid artery stenosis (CAS) was assessed using neck computed tomography angiography (CTA) and carotid duplex ultrasound (CDUS), with stenosis classified into two groups: normal (group 1) and mild or above (group 2), based on the North American Symptomatic Carotid Endarterectomy Trial (NASCET) criteria. Optical coherence tomography (OCT) and OCT angiography (OCTA) measured several retinal parameters, including sub foveal choroidal thickness (SFCT), retinal nerve fiber layer (RNFL) thickness, ganglion cell-inner plexiform layer (GCIPL) thickness, vessel density (VD), and foveal avascular zone (FAZ) area. Statistical analyses determined correlations between ICA degrees and retinal parameters. RESULTS: This study showed significant differences between groups in total VD, FAZ area, total RNFL thickness, and temporal RNFL thickness, indicating that patients with more severe ICA stenosis had noticeable retinal changes. Other parameters such as hyperlipidemia, total cholesterol levels, and intraocular pressure (IOP) also differed significantly, while no notable differences were observed in SFCT, central VD, average GCIPL, and superior, nasal, and inferior RNFL thickness. CONCLUSION: The study findings highlight retinal changes, such as an increased FAZ area, decreased total VD, and a total and thinner temporal RNFL, which suggest the need for carotid artery evaluation in patients. These findings have important clinical implications for the need for carotid work up in patients with PDR.


Assuntos
Estenose das Carótidas , Diabetes Mellitus , Retinopatia Diabética , Humanos , Retinopatia Diabética/complicações , Retinopatia Diabética/diagnóstico , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodos , Estenose das Carótidas/complicações , Estenose das Carótidas/diagnóstico por imagem , Constrição Patológica , Angiografia , Fatores de Risco , Vasos Retinianos , Angiofluoresceinografia/métodos
19.
Int Braz J Urol ; 50(3): 261-276, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38598829

RESUMO

INTRODUCTION: Urethral stricture is a common, albeit complex, condition that predominantly affects men. The aim of this study was to translate, culturally adapt, and validate the Patient-Reported Outcome Measure questionnaire for patients undergoing urethroplasty (USS-PROM) into Brazilian Portuguese using validated psychometric criteria. MATERIALS AND METHODS: The process involved translating and culturally adapting the original USS-PROM into Brazilian Portuguese (USS-PROMbr), synthesizing, back-translating, cross-culturally adapting, and analyzing the pre-final version with experts from our committee. This pre-version was administered to 10 patients who had undergone urethroplasty by the Reconstructive Urology team at the Hospital de Clínicas de Porto Alegre for face validation, linguistic, and semantic adjustments, resulting in the final USS-PROMbr version. Subsequently, well-established psychometric criteria, including content validity, internal consistency, and test-retest reproducibility, were assessed after administering the questionnaire to a total of 56 patients, with 50 of them responding to the test and retest. RESULTS: Evaluation of the pre-final version identified 15 questions as clear, and only one question was considered somewhat unclear necessitating modifications based on patient suggestions and subsequent reassessment by the research team. Psychometric criteria demonstrated good content validity, with a content validity index exceeding 0.80 for all questions; good internal consistency, Cronbach's alpha of 0.77, ranging from 0.70 to 0.78 with the exclusion of any item, and item-total correlations ranging from 0.33 to 0.67. The test-retest intraclass correlation coefficient was 0.74 for the lower urinary tract symptoms construct (Q1-Q6). CONCLUSION: The USS-PROMbr demonstrated acceptable cross-cultural adaptation and psychometric properties, making it a valid and useful tool for evaluating patients undergoing urethroplasty.


Assuntos
Estreitamento Uretral , Masculino , Humanos , Estreitamento Uretral/cirurgia , Reprodutibilidade dos Testes , Brasil , Inquéritos e Questionários , Constrição Patológica , Medidas de Resultados Relatados pelo Paciente , Psicometria/métodos , Qualidade de Vida , Comparação Transcultural , Traduções
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