Association of Rush Pin and Intramedular Pin Techniques for the Stabilization of Salter Harris Type I Fracture in Rabbit (Oryctolagus cuniculus)

Background: In domestic rabbits, fractures are usually the result of household accidents. Fractures of the distal femoral physis are frequently observed in animals with immature skeletons and may cause future orthopedic problems. With this type of fracture, early reduction and stabilization are necessary to prevent additional damage to the physis and to preserve the growth potential of the bone. This report aims to describe the clinical and radiographic findings, as well as the surgical method used that combined Rush pins with an intramedullary pin, associated with a Salter Harris type I fracture of the right distal femur in a rabbit.Case: A 4-month male domestic rabbit (Oryctolagus cuniculus) weighing 1.2 kg, was referred to the Veterinary Hospital with a right pelvic limb lameness after an episode of trauma. Orthopedic examination revealed swelling, instability, crepitation, and increased pain sensitivity in the distal aspect of the right femur. Following physical and radiographic examination,a Salter Harris type I fracture of the right distal femur was diagnosed. The patient was premedicated with a combination of xylazine (2 mg/kg IM) and ketamine (10 mg/kg IM), which allowed placement of an IV catheter for the administration of fluids and intubation using an endotracheal tube with an internal diameter of 2 mm. Anesthesia was maintained with isoflurane, and an epidural was performed with a combination of lidocaine (2 mg/kg) and bupivacaine (0.75 mg/kg). Osteosynthesis was performed with two Rush pins and an intramedullary pin. Radiographic examination 110 and 330 days after the surgical procedure showed good alignment of the bone and adequate healing of the fracture. The combination of techniques used in this case report proved to be effective, resulting in functional recovery of the limb and rapid bone healing.Discussion: Preoperative planning for orthopedic surgery in rabbits is different from that of dogs and cats, due to the particularities of the species. Familiarity with the regional anatomy, patient preparation, and appropriate instrumentation are necessary when contemplating osteosynthesis in a rabbit. Salter Harris fractures affect young animals, where the physis is considered an area of fragility in the bone. Surgical planning should take into account the function of the growth plates.It is recommended that implants passing through the physis do so perpendicularly, since angulation greater than 45° may predispose the bone to premature closure of the growth plate. Another important consideration involves the choice of implants, since the use of trocar-tipped pins facilitates their precise placement in the bone. The use of threaded pins should be avoided due to their weakness at the thread-shaft interface, and the risk of impaired longitudinal bone growth and thedifficulty of removal if necessary. Steinman pins and Kirschner wires can be used to stabilize a variety of different fractures. In Salter-Harris type I and II fractures, the use of pins neutralizes bending forces but not rotational or compressive forces. In contrast, Rush pinning and cross-pinning techniques are effective in neutralizing the forces acting on the physis, and are frequently used for the fixation of fractures in this region. Complications, often associated with poor reduction and alignment, can result in varus or valgus deviation and are associated with a high risk of implant failure or migration, malunion, and patellar luxation. It was concluded that the combination of Rush pins and an intramedullary pin resulted in adequate stabilization of the Salter Harris type I fracture of the distal femur in this rabbit.Keywords: Orthopedic implants, osteosynthesis, trauma, bone repairing, lagomorph

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Role of innate immunity in the progressive nephropathy that follows brief nitric oxide inhibition and salt overload

A inibição temporária da síntese de NO através da administração de L-NAME associada a uma sobrecarga salina (HS) é um modelo de doença renal crônica caracterizado por hipertensão severa e lesão renal. Com a interrupção do tratamento a maioria das alterações se normaliza, porém o retorno à normalidade não é completo. Uma nefropatia progressiva se instala acompanhada por inflamação persistente. Investigamos se a imunidade inata, em particular o sistema NF-kB, está envolvida nesse processo. Ratos Munich- Wistar machos receberam sobrecarga salina e L-NAME (32 mg/Kg/dia) e ratos controles receberam apenas sobrecarga salina. O tratamento foi cessado após 4 semanas e 30 animais foram avaliados. Ratos adicionais foram avaliados com 8 semanas (N=30) e 28 semanas (N=30). Como esperado, HS+L-NAME promoveu hipertensão severa, albuminúria e lesões renais, enquanto a ativação da imunidade inata foi evidente. Após a interrupção do tratamento ocorreu uma redução parcial das lesões renais e da inflamação, porém a imunidade inata permaneceu ativada. Ao final das 28 semanas as lesões glomerulares se agravaram e a inflamação e imunidade inata persistiram. A administração de pirrolidina ditiocarbamato (PDTC), um inibidor do sistema NFkB, em concomitância com o tratamento temporário com HS+L-NAME preveniu o desenvolvimento de inflamação e lesões renais durante todo o estudo. A ativação precoce da imunidade inata pode ser crucial para o início das lesões renais no modelo HS+L-NAME e para a progressão autônoma da nefropatia crônica, mesmo após a interrupção do insulto inicialNO synthase inhibition by L-NAME plus high-salt diet (HS) is a model of Chronic Kidney Disease characterized by marked hypertension and renal injury. With the cessation of treatment, most of these changes subside, but progressive renal injury develops, associated with persistent low-grade renal inflammation. We investigated whether innate immunity, and in particular the NF-kB system, is involved in this process. Male Munich-Wistar rats received HS and L-NAME, 32 mg/Kg/d, while control rats received HS only. Treatment was ceased after 4 weeks when 30 rats were studied. Additional rats were studied at 8 weeks (N=30) and 28 weeks (N=30). As expected, HS+L-NAME promoted severe hypertension, albuminuria, and renal injury after 4 weeks of treatment, whereas innate immunity activation was evident. After discontinuation of treatments, partial regression of renal injury and inflammation occurred, along with persistence of innate immunity activation. At 28 weeks, glomerular injury worsened, while renal inflammation persisted and renal innate immunity remained activated. Administration of the NF-kB inhibitor pyrrolidine dithiocarbamate (PDTC) in concomitancy with the four-week HS+L-NAME treatment prevented the development of renal injury and inflammation, an effect that lasted throughout the 28-week period of observation. Early activation of innate immunity may be crucial to the initiation of renal injury in the HS+LNAME model, and to the autonomous progression of chronic nephropathy even after cessation of the original insul

Association of Rush Pin and Intramedular Pin Techniques for the Stabilization of Salter Harris Type I Fracture in Rabbit (Oryctolagus cuniculus)

Background: In domestic rabbits, fractures are usually the result of household accidents. Fractures of the distal femoral physis are frequently observed in animals with immature skeletons and may cause future orthopedic problems. With this type of fracture, early reduction and stabilization are necessary to prevent additional damage to the physis and to preserve the growth potential of the bone. This report aims to describe the clinical and radiographic findings, as well as the surgical method used that combined Rush pins with an intramedullary pin, associated with a Salter Harris type I fracture of the right distal femur in a rabbit.Case: A 4-month male domestic rabbit (Oryctolagus cuniculus) weighing 1.2 kg, was referred to the Veterinary Hospital with a right pelvic limb lameness after an episode of trauma. Orthopedic examination revealed swelling, instability, crepitation, and increased pain sensitivity in the distal aspect of the right femur. Following physical and radiographic examination,a Salter Harris type I fracture of the right distal femur was diagnosed. The patient was premedicated with a combination of xylazine (2 mg/kg IM) and ketamine (10 mg/kg IM), which allowed placement of an IV catheter for the administration of fluids and intubation using an endotracheal tube with an internal diameter of 2 mm. Anesthesia was maintained with isoflurane, and an epidural was performed with a combination of lidocaine (2 mg/kg) and bupivacaine (0.75 mg/kg). Osteosynthesis was performed with two Rush pins and an intramedullary pin. Radiographic examination 110 and 330 days after the surgical procedure showed good alignment of the bone and adequate healing of the fracture. The combination of techniques used in this case report proved to be effective, resulting in functional recovery of the limb and rapid bone healing.Discussion: Preoperative planning for orthopedic surgery in rabbits is different from that of dogs and cats, due to the particularities of the species. Familiarity with the regional anatomy, patient preparation, and appropriate instrumentation are necessary when contemplating osteosynthesis in a rabbit. Salter Harris fractures affect young animals, where the physis is considered an area of fragility in the bone. Surgical planning should take into account the function of the growth plates.It is recommended that implants passing through the physis do so perpendicularly, since angulation greater than 45° may predispose the bone to premature closure of the growth plate. Another important consideration involves the choice of implants, since the use of trocar-tipped pins facilitates their precise placement in the bone. The use of threaded pins should be avoided due to their weakness at the thread-shaft interface, and the risk of impaired longitudinal bone growth and thedifficulty of removal if necessary. Steinman pins and Kirschner wires can be used to stabilize a variety of different fractures. In Salter-Harris type I and II fractures, the use of pins neutralizes bending forces but not rotational or compressive forces. In contrast, Rush pinning and cross-pinning techniques are effective in neutralizing the forces acting on the physis, and are frequently used for the fixation of fractures in this region. Complications, often associated with poor reduction and alignment, can result in varus or valgus deviation and are associated with a high risk of implant failure or migration, malunion, and patellar luxation. It was concluded that the combination of Rush pins and an intramedullary pin resulted in adequate stabilization of the Salter Harris type I fracture of the distal femur in this rabbit.Keywords: Orthopedic implants, osteosynthesis, trauma, bone repairing, lagomorph

Nutritional knowledge of women with breast cancer and its relationship with nutritional status

Objective: To assess the nutritional knowledge of women with breast cancer on the dietdisease interface and its association with nutritional status. Methods: Observational, crosssectional and analytical study, conducted between June and September 2011, with 59 women diagnosed with breast cancer, undergoing chemotherapy or radiotherapy treatment, older than 19, who did not receive prior nutritional counseling. Vegetarian women or those whose treatment had been completed more than two years prior to the study were not included. The patients were treated at a cancer care reference center, in Fortaleza-CE. Clinical and socioeconomic data was collected through direct interview and searching in medical records. The assessment of nutritional knowledge (NK) was performed with the Nutrition Knowledge Scale, developed by the National Health Interview Survey Cancer Epidemiology, validated for Brazil, applied by a trained interviewer. Nutritional status was assessed through body mass index (BMI) and waist circumference. Data was analyzed statistically by SPSS 16.0. Results: Among 59 patients evaluated, 18 (30.5%) women had a limited knowledge of the diet-disease association. The mean BMI was 29 kg/m2 (± 4.4) and 47 (79.7%) women presented excessive weight (overweight or obesity). There was no correlation between nutritional knowledge and BMI (p = 0.64). Nutrition knowledge scores were similar among patients with overweight and normal weight (p = 0.89). Conclusion: Women in this study had a limited knowledge of the interface between diet and disease, were overweight, but there was no correlation between their nutritional knowledge and nutritional status

TCD assessment in fulminant hepatic failure: Improvements in cerebral autoregulation after liver transplantation

Introduction and Objectives: Acute liver failure, also known as fulminant hepatic failure (FHF), includes a spectrum of clinical entities characterized by acute liver injury, severe hepatocellular dysfunction and hepatic encephalopathy. The objective of this study was to assess cerebral autoregulation (CA) in 25 patients (19 female) with FHF and to follow up with seventeen of these patients before and after liver transplantation. Patients and Methods: The mean age was 33.8 years (range 14–56, SD 13.1 years). Cerebral hemodynamics was assessed by transcranial Doppler (TCD) bilateral recordings of cerebral blood velocity (CBv) in the middle cerebral arteries (MCA). Results: CA was assessed based on the static CA index (SCAI), reflecting the effects of a 20–30 mmHg increase in mean arterial blood pressure on CBv induced with norepinephrine infusion. SCAI was estimated at four time points: pretransplant and on the 1st, 2nd and 3rd posttransplant days, showing a significant difference between pre- and posttransplant SCAI (p = 0.005). SCAI peaked on the third posttransplant day (p = 0.006). Categorical analysis of SCAI showed that for most patients, CA was reestablished on the second day posttransplant (SCAI > 0.6). Conclusions: These results suggest that CA impairment pretransplant and on the 1st day posttransplant was re-established at 48–72 h after transplantation. These findings can help to improve the management of this patient group during these specific phases, thereby avoiding neurological complications, such as brain swelling and intracranial hypertension

TCD assessment in fulminant hepatic failure: Improvements in cerebral autoregulation after liver transplantation

Introduction and Objectives Acute liver failure, also known as fulminant hepatic failure (FHF), includes a spectrum of clinical entities characterized by acute liver injury, severe hepatocellular dysfunction and hepatic encephalopathy. The objective of this study was to assess cerebral autoregulation (CA) in 25 patients (19 female) with FHF and to follow up seventeen of these patients before and after liver transplantation. Patients and Methods The mean age was 33.8 years (range 14–56, SD 13.1 years). Cerebral hemodynamics was assessed by transcranial Doppler (TCD) bilateral recordings of cerebral blood velocity (CBv) in the middle cerebral arteries (MCA). Results CA was assessed based on the static CA index (SCAI), reflecting the effects of a 20–30 mmHg increase in mean arterial blood pressure on CBv induced with norepinephrine infusion. SCAI was estimated at four time points: pretransplant and on the 1st, 2nd and 3rd posttransplant days showing a significant difference between pre- and posttransplant SCAI (p = 0.005). SCAI peaked on the third posttransplant day (p = 0.006). Categorical analysis of SCAI showed that for most patients, CA was reestablished on the second day posttransplant (SCAI > 0.6). Conclusions These results suggest that CA impairment pretransplant and on the 1st day posttransplant was re-established at 48–72 h after transplantation. These findings can help to improve the management of this patient group during these specific phases, thereby avoiding neurological complications, such as brain swelling and intracranial hypertension.</p