scholarly journals High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from South‐Western Germany

Author(s):  
Leonie Frommherz ◽  
Alexandra Krause ◽  
Julia Kopp ◽  
Alrun Hotz ◽  
Stefanie Hübner ◽  
...  
2021 ◽  
Vol 9 (2) ◽  
pp. 232596712098164
Author(s):  
Steven F. DeFroda ◽  
Devan D. Patel ◽  
John Milner ◽  
Daniel S. Yang ◽  
Brett D. Owens

Background: Anterior cruciate ligament (ACL) injury in National Basketball Association (NBA) players can have a significant impact on player longevity and performance. Current literature reports a high rate of return to play, but there are limited data on performance after ACL reconstruction (ACLR). Purpose/Hypothesis: To determine return to play and player performance in the first and second seasons after ACLR in NBA players. We hypothesized that players would return at a high rate. However, we also hypothesized that performance in the first season after ACLR would be worse as compared with the preinjury performance, with a return to baseline by postoperative year 2. Study Design: Case series; Level of evidence, 4. Methods: An online database of NBA athlete injuries between 2010 and 2019 was queried using the term ACL reconstruction. For the included players, the following data were recorded: name; age at injury; position; height, weight, and body mass index; handedness; NBA experience; dates of injury, surgery, and return; knee affected; and postoperative seasons played. Regular season statistics for 1 preinjury season and 2 postoperative seasons were compiled and included games started and played, minutes played, and player efficiency rating. Kaplan-Meier survivorship plots were computed for athlete return-to-play and retirement endpoints. Results: A total of 26 athletes underwent ACLR; of these, 84% (95% CI, 63.9%-95.5%) returned to play at a mean 372.5 days (95% CI, 323.5-421.5 days) after surgery. Career length after injury was a mean of 3.36 seasons (95% CI, 2.27-4.45 seasons). Factors that contributed to an increased probability of return to play included younger age at injury (odds ratio, 0.71 [95% CI, 0.47-0.92]; P = .0337) and fewer years of experience in the NBA before injury (odds ratio, 0.70 [95% CI, 0.45-0.93]; P = .0335). Postoperatively, athletes played a significantly lower percentage of total games in the first season (48.4%; P = .0004) and second season (62.1%; P = .0067) as compared with the preinjury season (78.5%). Player efficiency rating in the first season was 19.3% less than that in the preinjury season ( P = .0056). Performance in the second postoperative season was not significantly different versus preinjury. Conclusion: NBA players have a high rate of RTP after ACLR. However, it may take longer than a single season for elite NBA athletes to return to their full preinjury performance. Younger players and those with less NBA experience returned at higher rates.


Hand Surgery ◽  
2013 ◽  
Vol 18 (02) ◽  
pp. 175-178 ◽  
Author(s):  
A. S. C. Bidwai ◽  
F. Cashin ◽  
A. Richards ◽  
D. J. Brown

We present the clinical outcome of patients who underwent RE-MOTION Total Wrist Replacement (TWR) for the treatment of Rheumatoid arthritis involving the wrist. Ten patients were available for follow-up, ranging from one to five years after index surgery. Two patients required surgical intervention for wound breakdown, including one patient who required a radial forearm flap for skin coverage. No patients required revision surgery or conversion to fusion. Patients who did not have complications gained statistically significant pain relief and improvement in mean overall flexion. In this small case series with short to medium results patients reported an improvement in terms of flexion and pain. Despite this, the question of efficacy of TWR compared to fusion in the long term remains unanswered due to the high rate of complications.


2010 ◽  
Vol 38 (3) ◽  
pp. 476-485 ◽  
Author(s):  
Piper M. Treuting ◽  
Tina M. Albertson ◽  
Bradley D. Preston

Acute tumor lysis syndrome (ATLS) is characterized by severe metabolic abnormalities and organ dysfunction resulting from rapid destruction of neoplastic cells. Metabolic disturbances are thought to be the primary cause of clinical ATLS symptoms, which include renal dysfunction, seizures, and cardiac arrhythmias. The histopathologic lesions associated with organ dysfunction are largely unknown because of the low rate of mortality of ATLS in humans and the few cases of ATLS identified in laboratory animals. Here, we describe histologic, immunohistochemical, and electron microscopic analyses of thirty-one ATLS cases from a cohort of 499 mice that are prone to spontaneous lymphoblastic lymphoma owing to genetic defects in DNA replication fidelity. Seventy-three percent of our cohort died with lymphoblastic lymphoma, and 8% of affected mice died with diffuse microthromboemboli consistent with ATLS. Mice with ATLS had a high spontaneous mortality rate (>50%), a large tumor burden with disseminated disease, and evidence of leukemia. Blood vessels in the lung, kidney, and other organs were occluded by microthromboemboli composed of chromatin, cellular debris, fibrin, platelets, and entrapped erythrocytes and malignant cells. This case series suggests that ATLS can occur at high frequency in mice with disseminated lymphoblastic lymphoma and leads to a high rate of spontaneous death from microthromboemboli.


2020 ◽  
Vol 14 (1) ◽  
pp. 137-149 ◽  
Author(s):  
Natthapat Rujeerapaiboon ◽  
Panu Wetwittayakhlang

Primary hepatic angiosarcoma (PHA) is a rare mesenchymal liver tumor, accounting for 0.1–2% of primary liver malignancies. The clinical presentations of PHA are variable, from asymptomatic to liver failure or complicated with tumor rupture. The diagnosis of PHA is difficult due to the lack of specific clinical manifestation and investigation results, which can be confused with other liver tumors resulting in late diagnosis. However, there is currently a paucity of effective therapeutic approaches. We advocate early diagnosis with radiological imaging and histopathology because most of them are diagnosed in late-stage and carry a grave prognosis. Surgical resection remains the mainstay of treatment, which can significantly prolong survival. Chemotherapy, including transarterial chemoembolization, is an option for palliative treatment. Unfortunately, molecular treatment has limited efficacy and liver transplantation is also not recommended due to high rate of recurrence. We present a case series of four patients with biopsy-proven PHA which had distinct presentations and clinical courses.


2019 ◽  
Vol 41 (1) ◽  
pp. 57-62 ◽  
Author(s):  
Anne K. Bremer ◽  
Lukas Kraler ◽  
Lars Frauchiger ◽  
Fabian G. Krause ◽  
Martin Weber

Background: The treatment of displaced intra-articular calcaneal fractures remains a challenge and the optimal approach is still controversial. The main reason to avoid the extended lateral approach is the high complication rate due to wound healing problems. We report on 16 years of experience with a standardized limited open reduction and internal fixation technique. Methods: Between 2001 and 2017, we prospectively followed 240 consecutive patients operatively treated for a displaced intra-articular calcaneal fracture. Patients with open, multiple, bilateral, extra-articular, and Sanders IV fractures and those lost to follow-up were excluded. A lateral subtalar approach was used, with a cast for 8 weeks and full weightbearing allowed after 12 weeks. Follow-up examinations were scheduled until 24 months. Subjective and clinical assessment included gait abnormality, subtalar and ankle range of motion, and stability and alignment. The American Orthopaedic Foot & Ankle Society (AOFAS) hindfoot score was calculated. Alignment was analyzed on standard radiographs. In total, 131 patients were excluded. The remaining 109 patients were followed for a minimum of 24 months (34.4 ± 14.2 [range, 24-102] months). Results: The mean AOFAS score was 87 ± 13 (range, 32-100). “Excellent” and “good” results, as well as hindfoot motion with “normal/mild” and “moderate” restrictions, were seen in 80% of patients. Early reoperations were performed for insufficient reduction (2 patients), delayed wound healing (debridement, 3 patients), and hematoma (1 patient). Late revisions were arthrodesis (3 patients), medializing calcaneal osteotomy (1 patient), and implant removal (53 patients; 49%). Conclusion: The presented approach has remained unmodified for 16 years and resulted in consistently good functional results. The main disadvantage was the high rate of heel screw removal. Level of Evidence: Level IV, retrospective case series.


2018 ◽  
Vol 39 (10) ◽  
pp. 1135-1140 ◽  
Author(s):  
Elizabeth McDonald ◽  
Brian Winters ◽  
Kristen Nicholson ◽  
Rachel Shakked ◽  
Steven Raikin ◽  
...  

Background: In an effort to minimize narcotic analgesia and its potential side effects, anti-inflammatory agents offer great potential provided they do not interfere with bone healing. The safety of ketorolac administration after foot and ankle surgery has not been well defined in the current literature. The purpose of this study was to report clinical healing and radiographic outcomes for patients treated with a perioperative ketorolac regimen after open reduction and internal fixation (ORIF) of ankle fractures. Methods: A retrospective review was performed on all patients that received perioperative ketorolac at the time of lateral malleolar, bimalleolar, and trimalleolar ankle ORIF by a single surgeon between 2010 and 2016 with minimum 4 months follow-up. Patients received 20 tablets of 10 mg ketorolac Q6 hours. Radiographs were evaluated independently by 2 blinded fellowship-trained orthopedic foot and ankle surgeons to assess for radiographic healing. A total of 281 patients were included, with a median age of 51 years and 138 males (47%). Statistical analysis consisted of a linear mixed-effects regression. Results: In all, 265/281 (94%) were clinically healed within 12 weeks and 261/281 (92%) were radiographically healed within 12 weeks. Within the group of patients that did not heal within 12 weeks, mean time to clinical healing was 16.9 weeks (range = 14-25 weeks), and mean time to radiographic healing was 17.1 weeks (range = 14-25 weeks). In patients taking ketorolac, there were no cases of nonunion in our series (n = 281) and no significant difference found between fracture patterns and healing or complications ( P = .500). Conclusions: Perioperative ketorolac use was associated with a high rate of fracture union by 12 weeks. This is the first study to examine the effect of ketorolac on radiographic time to union of ankle fractures. Additional studies are necessary to determine whether ketorolac helps reduce opioid consumption and improve pain following ORIF of ankle fractures. Level of Evidence: Level IV, case series.


2019 ◽  
Vol 7 (11) ◽  
pp. 232596711987988
Author(s):  
Gabriel S. Perrone ◽  
Kate E. Webster ◽  
Chris Imbriaco ◽  
Gabriela M. Portilla ◽  
Amishi Vairagade ◽  
...  

Background: There is a high incidence of a secondary anterior cruciate ligament (ACL) injury in unbraced adolescent athletes. Little is known about the effect of functional bracing with regard to the risk of secondary ACL injuries among adolescents. Hypothesis: Our primary hypothesis was that adolescents would have a high rate of secondary ACL injury even with brace use. A secondary hypothesis was that the reinjury rate with brace use would be lower than that of a historical control group of unbraced patients. Study Design: Case series; Level of evidence, 4. Methods: A group of 219 patients (age <20 years at surgery) who underwent ACL reconstruction and were prescribed postoperative functional bracing during cutting and pivoting sports for 2 years after surgery completed a survey regarding reinjury to either knee. Rates of knee injuries following ACL reconstruction were calculated and compared with those reported in a similar unbraced cohort. The effect of demographic and anatomic factors on risk of secondary ACL injuries was also investigated. Results: The overall follow-up rate was 65% (142/219) at a mean 5.6 years after surgery. In the braced cohort, the overall graft retear rate was 10%, with the highest retear rates observed in male patients 17 years of age and younger (18%). The overall contralateral ACL injury and combined (graft or contralateral ACL) secondary injury rates were 13% and 23%, respectively, with female patients younger than 18 years having the highest contralateral and combined injury rates (17% and 26%, respectively). Younger age (odds ratio [OR], 0.70; P = .021), family history of ACL injury (OR, 2.81; P = .015), and higher lateral tibial slope (OR, 1.25; P = .016) were associated with increased risk of secondary knee injury in the braced cohort. Compared with the unbraced cohort, the braced cohort had a lower overall graft retear rate ( P = .028), a lower graft retear rate in patients younger than 18 years ( P = .012), lower early graft retear rate (within the first year after surgery) ( P = .011), and lower early graft retear rate in subjects younger than 18 years ( P = .003). Conclusion: Postoperative use of functional bracing can result in reduced risk of graft retear and no change in contralateral injury rates. Clinicians may want to consider the use of postoperative functional bracing in adolescent patients.


2010 ◽  
Vol 5 (1) ◽  
pp. 49-60 ◽  
Author(s):  
John A. Jane ◽  
Daniel M. Prevedello ◽  
Tord D. Alden ◽  
Edward R. Laws

Object The majority of pediatric craniopharyngiomas are treated using a transcranial approach. Although there is an increasing acceptance of transsphenoidal resection in adults, there are few reports describing this approach in the pediatric population. The purpose of this study is to report the outcomes after transsphenoidal surgery in a consecutive series of pediatric patients with craniopharyngiomas treated at a single institution with the goal of gross-total resection (GTR). Methods Twenty-three patients with pathologically proven craniopharyngiomas were identified who were 18 years of age or less at the time of surgery. The medical records and imaging studies of the patients were retrospectively reviewed. One patient who was lost to follow-up after surgery was excluded. Results Among the 22 patients included in the study, 11 underwent transsphenoidal surgery as the primary procedure and 11 underwent transsphenoidal surgery as a secondary procedure after a previous procedure. All patients had at least some sellar component to their tumor and all had either anterior or posterior pituitary dysfunction at presentation. In the entire cohort, a GTR was achieved in 15 (68%) of 22 patients, a radical subtotal resection in 4 (18%) of 22 patients, a subtotal resection in 1 patient, and a partial resection in 2 patients. The degree of resection was higher in the primary transsphenoidal group. After a mean follow-up of 82 months, 4 patients (18%) experienced recurrence. Recurrence occurred in 13% after GTR compared with 28.5% after all other degrees of resection. Tumor recurred in 9% of the primary transsphenoidal group and in 30% of patients who had undergone other therapies prior to the transsphenoidal operation. No patient who had panhypopituitarism experienced a gain of function postoperatively, 67% developed new panhypopituitarism, and 56% experienced new diabetes insipidus. Vision improved or normalized in 9 (64%) of 14 patients presenting with visual loss. Complications included 1 death 3 weeks postoperatively, 2 CSF leaks, and new obesity in 37%. Conclusions Transsphenoidal resection of pediatric craniopharyngiomas results in a high rate of both visual improvement and GTR with a low associated risk of recurrence. The transsphenoidal approach should be considered in selected pediatric patients with craniopharyngioma, especially those with infradiaphragmatic origin.


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