Short Limbs Research Articles

Treatment of Diaphyseal and Metaphyseal Fractures of the Upper Limbs (Humerus, Radius, Ulna) Using Extension Casts

Fractures occur more often in the pediatric age group than in healthy adults. One reason for this is that children and adolescents are less skilled at-risk assessment. Humeral fracture comprises approximately 7-8% of all adult fractures in the western world. Adult humeral diaphysis fractures account for roughly 3% of all fractures and 20% of all humerus fractures. The aim of this study is to evaluate results of Management of Upper Limb Diaphysis and Metaphyseal Fractures (Humerus, Radius and Ulna) with Application of Extension Cast in closed fractures in adults to assess the functional acceptance of the procedure. The present study was carried out at Department of Orthopaedic Surgery BSMMU from June 2022 to July 2023. This hospital-based study is conducted to manage diaphysis and metaphyseal fractures by applying extension cast to improve range of motion. The study included upper arm fracture patients. Forty- two newly diagnosed cases of the fracture of upper extremities whose radiological and clinical record were intact, constituted the study cases. So, the individual was registered as a "case" after clinical diagnosis was confirmed. During follow-up after casting two patients never showed up so only 60 patients were chosen for the extension casting method. Patients in extension casting group were followed up from 14 to 22 months, with an average of (17.34±2.61) months. The full-length cast was applied from 4 to 6 weeks with a mean of 5 weeks. All casts were converted to the above elbow cast when the fracture became sticky. Radiological evidence of a fluffy callus appeared at an average of 35 days and bony union was achieved at a mean of (3.48±0.59) months. In current study after 1 year of treatment, the mean range of motion of all joints of affected limb became normal the mean VAS score after 6 weeks was 8 after 3 months the mean VAS score was 4 and after 6 months the mean was score was 1. Extension cast allows gravity to work all the time which is especially beneficial for comminuted fractures. This reduces the chances of limb shortening.

Bone Regeneration After Nail Distraction Osteogenesis: Review of Current Knowledge and Application Combined with a Case Report with Radiological, Histological, and Electron Microscopic Analysis.

Background: Limb-lengthening surgeries via nail distraction osteogenesis (DO) have become more popular lately. This provides an opportunity to study human bone that has grown longer. Case details: We present a case of a 22-year-old male who underwent internal upper and lower leg lengthening by 12 cm and 6 cm, respectively, under full weight bearing. He requested bilateral femoral shortening by 4 cm using a shortening nail, 24 months after the index surgery. The regenerated bones were harvested and analyzed. Results: Good bone quality and well-organized structure were observed in the regenerated bones compared with the native human adult bony architecture. Conclusions: This case demonstrates that bilateral bone regeneration during DO with a nail can result in a bone morphology that is comparable to that of native adult human bony macro- and micro-anatomy. This supports the effectiveness and potential of this surgical approach for limb lengthening and shortening procedures, although more investigations are necessary in this regard.

Free fillet flap: Outcomes in emergency microsurgical reconstruction of upper and lower limb

INTRODUCTIONDespite its infrequency, “spare-part surgery” represents a reconstructive strategy that uses segments of amputated limbs as donor tissue to preserve function in other injured anatomical regions. The purpose was to review our 14-year experience in emergency microsurgical reconstruction of traumatised limbs using free fillet flaps obtained from non-salvageable amputated parts. MATERIALS AND METHODSA retrospective observational study was conducted on patients who underwent urgent free fillet flap transfer for upper or lower limb reconstruction between 2007 and 2021. The characteristics and levels of injury, as well as the flap designs, functional outcomes and complications were documented. RESULTSA series of eight clinical cases is presented. One osteo-tendino-cutaneous and seven fasciocutaneous flaps were filleted from non-replantable amputated limbs for free transfer. Stable coverage of the dorsal aspect of the hand and fingers was achieved in three patients, and limb shortening was avoided in five patients. An open fracture of the thumb with bone defect, three below-knee stumps and one trans-metatarsal level were preserved. The mean Q-DASH score for upper limb reconstructions was 16.75 points. In all cases of lower limb reconstruction, the nerves were repaired, resulting in a protective sensitivity (S3 level) with no pressure ulcer development during the follow-up period. All patients were able to return to normal prosthetic ambulation with a mean Amputee Mobility Predictor Pro score of 45 points. Two haematomas, one surgical wound dehiscence, and two immediate revisions of venous anastomoses were registered. CONCLUSIONSThe microvascular filleted flap demonstrated versatility in the emergency reconstruction of complex limb injuries, providing stable coverage and optimised limb length preservation within a single major surgical procedure while eliminating morbidity from any other uninjured donor site.

Radial Longitudinal Deficiency: Description of a Novel Surgical Technique and Clinical Cases

Radial longitudinal deficiency III and IV present as a short upper limb, functional elbow, and wrist with severe radial and palmar angulation, where the carpus articulates with the radial and palmar edge of the ulna, allowing limited mobility in a nonfunctional position. Surgical treatment aims to correct radial angulation and flexed carpal position, often altering carpal positioning over the distal ulna and impacting wrist mobility. In addition, fixation through distal ulnar epiphysis affects its growth. Although these procedures improve appearance, functionality remains suboptimal. This study describes a novel ulnar osteotomy and extensor carpi ulnaris transfer for the correction of wrist deformity in radial longitudinal deficiency with preservation of ulnocarpal motion and epiphyseal growth. The surgical technique, indications, contraindications, and potential complications are described. Three cases with postoperative follow-ups at 36, 12, and 6 months, evaluating deformity and pre/postsurgical wrist mobility ranges, are reported. A correction was achieved in the forearm-hand angle of 71 to 88 degrees of the initial. The total range of movement, between 50 degrees and 80 degrees, was almost the same before and after the operation in the most anatomic position. In one patient, there was a residual deformity at the dorsoradial border, which showed no progression during the last 6 months of follow-up. For patients with radial longitudinal deficiency, functional outcomes with preserved mobility appear to hold greater significance. The technique described in this study enabled deformity correction while maintaining a wide range of motion. The preservation of the physis in a different orientation is an aspect that will need evaluation in long-term follow-up but offers potential treatment options in the future; due to the unknown of the secondary deformity, it is recommended that the long-term results should be awaited before adoption of this technique.

The Optimal Bilio Pancreatic Limb (BPL) Length in One Anastomosis Gastric Bypass (OAGB), A Systematic Review

Abstract Background The number of patients undergoing bariatric surgery for morbid obesity has progressively increased in the last 20 years worldwide. The procedures most performed nowadays are sleeve gastrectomy (SG) and Roux-en-Y gastric bypass (RYGB), accounting for 46% and 38.2% of all procedures, respectively. Among the other bariatric procedures, one anastomosis gastric bypass (OAGB) has rapidly gained acceptance and diffusion worldwide and represents 7.6% of all bariatric interventions The one anastomosis gastric bypass (OAGB) has currently gained a widespread diffusion among bariatric surgeons, being the third commonest procedure worldwide performed after sleeve gastrectomy and Roux-en-Y gastric bypass (RYGB). OAGB gained many supporters but also several criticisms for the possible onset of biliary reflux and malabsorption with consequent nutritional deficits Objective To find the most optimal length of biliopancreatic limb length in one anastomosis gastric bypass with best weight loss, outcomes and least possible malnutrition. Patients and Methods Out of the included studies, there was five Cohort study, while the remaining studies was RCT. Follow-up periods ranged between one and 12 months to 36 months. Regarding patients’ characteristics, 7343 patients were studied in the included articles. Results The rates of anemia were significantly higher in the long limb procedures due to the reduced capacity to absorb iron. However, we could not find significant differences between long and short limb procedures in the rates of iron deficiency; the small number of studies in such a comparison might have contributed to this finding. Data Sources Medline databases (PubMed, Medscape, ScienceDirect. EMF-Portal) and all materials available in the Internet till 2023. Conclusion While long limb surgery induced significantly higher weight loss than short limb procedures as indicated by %EWL and %TWL, long limb procedures were associated with multiple nutritional deficiencies, including hypoalbuminemia, hypoproteinemia, and hypocalcemia. Additionally, higher proportions of anemia and malnutrition were observed after long limb procedures compared to short limb procedures. The results should be interpreted with caution given the inherent limitations of studies’ design (primarily retrospective investigations) and the small number of studies that assessed nutritional differences over long follow-up periods. Future large- sized RCTs are required to assess the efficacy and safety of long limb procedures on weight loss and nutritional outcomes, considering the roles of BPL length, ethnic variation, gut hormonal response, and the malabsorptive paradigm of gastric bypass surgeries.

Methods and Strategies of Microsurgery Combined with Ilizarov Technique in the Treatment of Amputation of Limbs in Renji Hospital: A Report of 51 Cases.

Severe limb amputation trauma often results in bone and soft tissue defects after debridement. Traditional replantation aims to save the limb by shortening the ischemic period and using autologous transplantation for repair, but it can lead to surgical trauma, donor site damage, and prolonged operation time. Due to contusion, pollution, and complex injury, there is no unified standard for replantation and fixation. Improper operation can easily lead to complications such as bone infection, nonunion, bone defect, and joint stiffness. This study introduces the Ilizarov technique into microsurgery to improve limb lengthening after reconstruction and standardizes the steps of replantation fixation for complex limb avulsion injuries, with a focus on clinical efficacy. A retrospective analysis was performed on 51 patients with complex limb amputation who were treated in Zhengzhou Renji Hospital from June 2009 to March 2021. On the basis of microsurgical limb replantation, Ilizarov technology was introduced to innovate the internal and external combined stepwise fixation method for replantation. Patients' gender, age, height, weight, BMI, and other general information were collected. X-ray films were reviewed regularly to observe the surgical healing of fracture, that is, the degree of limb shortening. The lengthening time, carrying time after lengthening, follow-up time, Dahl classification, Paley fracture healing classification, and Chen Zhongwei's replantation function score were used to evaluate the recovery of the affected limb. A total of 51 patients were included in this group, including 36 male patients and 15 female patients. All the amputated wounds were single limb amputation. In this group of patients, the hind limbs were shortened by 2-12.5 cm (5.32 ± 2.24) after replantation. A total of 44 patients whose hind limbs were shortened by more than 2.5 cm were treated with two-stage Ilizarov lengthening for 1.5-5.5 months (3.19 ± 1.03). The carrying time was 3-7.5 months (4.25 ± 0.94), and the follow-up time was 1-7.8 years (3.76 ± 1.69). Among the 49 survived patients, the Dahl grade of external fixation was less than Grade 2 in 89.8%. The excellent and good rate of Paley fracture healing classification was 89.8%. The excellent and good rate of Chen Zhongwei's limb replantation function classification was 79.6%. Microsurgery combined with Ilizarov technique in the treatment of limb amputation injury, limb salvage reconstruction with internal and external combined step-by-step combined fixation, and one-stage shortening and two-stage limb lengthening can reduce the occurrence of osteomyelitis, bone defect and nonunion, expand the indications of limb replantation, improve the success rate of limb replantation, with satisfactory results, and facilitate the promotion of clinical techniques.

Does the length of bypassed bowel during distal gastric bypass affect weight loss?

Weight recurrence (WR) affects > 20% of patients following Roux-en-Y gastric bypass (RYGB). Shortening of the common channel (CC) after RYGB (distal bypass) has been proposed for additional weight loss in patients with WR, but results vary, and concerns for vitamin deficiencies/malnutrition exist. Our aim was to determine whether the percentage of bowel bypassed after distal bypass is associated with the amount of postoperative weight loss. Patients undergoing distal bypass between 2018 and 2022 were reviewed. Small bowel limb lengths before and after distal bypass were measured, and the percentage of bypassed bowel was calculated (= bypassed biliopancreatic limb/total small bowel length). Patients were dichotomized into two groups based on the percentage bypassed bowel (≤ 50% vs. > 50%). Weight loss (measured as excess BMI loss; EBIL%), comorbidities resolution, complications, and nutritional deficiencies were reviewed. Thirty female patients underwent distal bypass during the study period. After distal bypass, the Roux was lengthened to 150cm (75-175cm) from 75cm (20-200cm), and the CC shortened to 150cm (100-310cm) from 510cm (250-1000cm). These changes resulted in an increase in the size of the bypassed biliopancreatic limb from 40cm (15-90cm) to 330cm (180-765cm) and a total alimentary limb (TALL; Roux + CC) shortening from 590cm (400-1075cm) to 300cm (250-400cm). The group with > 50% bowel bypassed had higher EBIL%. Overall EBIL% was 36.9 ± 14.7%, 53.3 ± 25.6%, and 62.1 ± 36.9% at 0.5, 1, and 2years, respectively. There were minimal vitamin deficiencies. Diabetes resolved in 100% (n = 3/3), HTN in 67% (n = 10/15), and GERD in 73% (n = 11/15). Complication rate was 23%. No reintervention for malnutrition or vitamin deficiencies was required. Distal bypass effectively leads to considerable weight loss and comorbidity improvement in patients with WR after RYGB, but the amount of weight loss depends on the percentage of bypassed bowel. An exact threshold of bypassed bowel that optimizes weight loss outcomes and simultaneously minimizes the nutritional complications needs to be determined. Meanwhile, close monitoring for vitamin deficiencies is recommended.

Application of Flow-through Anterolateral Thigh Perforator Flaps in Replantation of Complex Severed Limb

ObjectiveTo explore the clinical application value of flow-through anterolateral thigh perforator (ALTP) flaps in replantation of complex severed limbs. MethodsThirteen severe vascular, nerve injury, and skin or soft tissue defects in patients with complex severed limbs from August 2017 to January 2019 were enrolled in this retrospective study. The skin flap has covered the wound by using the flow-through ALTP flap technique. The main vascular defect was repaired by using the descending branch of the lateral circumflex femoral artery, and the blood supply of the transplanted limb was reconstructed. The blood supply of the flap and wound healing observed were observed after the operation. Regular follow-up was performed to observe the survival and functional recovery of the replanted limb. ResultsEleven cases of replanted limb and perforator flap survived completely. Limb shortening occurred in 3 patients owing to bone defects caused by distal amputation. After the second stage of bone transplantation, the limb length and function of those 3 patients recovered well. One case showed necrosis of the little finger after replantation of the severed palm. One case showed that the crushed forearm was severed completely. The anastomotic vascular inflammatory embolism was caused by infection and necrosis of soft tissue after replantation for 2 weeks, and then the stump wound was covered with a survived skin flap in the second stage. ConclusionThe flow-through ALTP flap technique has a good therapeutic effect on the functional reconstruction of complex severed limbs with severe skin and vascular injuries.

Designing and additive manufacturing of talus implant for post-traumatic talus avascular necrosis: a case study

New technologies in additive manufacturing and patient-specific CT-based custom implant designs make it possible for previously unimaginable salvage and limb-sparing operations a practical reality. This study presents the design and fabrication of a lattice-structured implant for talus replacement surgery. Our primary case involved a young adult patient who had sustained severe damage to the talus, resulting in avascular necrosis and subsequent bone collapse. This condition caused persistent and debilitating pain, leading the medical team to consider amputation of the left foot at the ankle level as a last resort. Instead, we proposed a Ti6Al4V-based patient-specific implant with lattice structure specifically designed for pan-talar fusion. Finite element simulation is conducted to estimate its performance. To ensure its mechanical integrity, uniaxial compression experiments were conducted. The implant was produced using selective laser melting technology, which allowed for precise and accurate construction of the unique lattice structure. The patient underwent regular monitoring for a period of 24 months. At 2-years follow-up the patient successfully returned to activities without complication. The patient’s functional status was improved, limb shortening was minimized.

Diaphyseal Tibia and Fibula Malunion Treated with Open Osteotomy and Internal Fixation: A Case Report

Diaphyseal fractures of the tibia and fibula often occur due to traffic accidents. Bone fractures can heal well with proper treatment. However, many cases that are neglected lead to complications such as malunion, particularly in developing countries. Malunion occurs when a fractured bone heals with the fragments in improper positions. Malunion in bone fractures can lead to complications such as decreased bone or limb function, deformities, pain, non-union, avascular necrosis, and limb shortening. This case study reports on a 29-year-old woman with malunion in the tibia and fibula due to a neglected bone fracture for eight months. Symptoms include pain, deformities, and limb shortening. The management involved open osteotomy and ORIF (open reduction with internal fixation), demonstrating that ORIF and osteotomy are successful surgical techniques for correcting malunion in this case. The goals of surgical treatment for malunion are to restore function, reduce discomfort, and correct visually apparent abnormalities.

Spherical varus rotational osteotomy of the femur using a navigation system as extra-articular surgery for extensive osteonecrosis of femoral head: a case control study

BackgroundCurved varus osteotomy (CVO) is an effective femoral head-preserving surgical procedure for osteonecrosis of the femoral head (ONFH) classified as type B or C1 according to the Japanese Investigation Committee (JIC) classification; it reportedly provides better postoperative outcomes than transtrochanteric rotational osteotomy (TRO). We have developed a new procedure called spherical varus rotational osteotomy (SVRO) in which osteotomy of the femur into a spherical shape is followed by varus and anterior rotation using navigation to increase indications and improve postoperative outcomes.MethodsNine joints of eight patients who underwent SVRO and could be followed up for > 1 year were included in the study. Disease types determined preoperatively according to the JIC classification were type C1 for four joints and type C2 for five joints. Preoperative disease JIC classification stages were 3a for eight joints and 1 for one joint. SVRO was performed using OrthoMap® 3D Navigation software, and the following variables were measured: surgery time, intraoperative blood loss, difference between preoperative and postoperative angles of anteversion, postoperative lower limb length discrepancy, and postoperative intact area occupancy. The Japanese Orthopaedic Association Hip Disease Evaluation Questionnaire (JHEQ) was used for clinical evaluation. Visual Analog Scale and JHEQ scores were evaluated preoperatively and at the final follow-up.ResultsThe measurement results were as follows: surgery time, 130 min; blood loss, 200 ml; angle of varus, 20°; angle of anterior rotation, 30°; preoperative angle of anteversion, 15°; postoperative angle of anteversion, 22°; lower limb shortening, 11 mm; preoperative intact area occupancy, 0%; and postoperative intact area occupancy, 74.2%. There were no cases of progression in the postoperative stages or re-collapse.ConclusionSVRO allows for the repositioning of the exterior and posterior intact areas, providing a broader intact region postoperatively. This technique is particularly beneficial for young patients with ONFH and extensive necrosis and is a less invasive alternative to TRO. This procedure has been shown to be effective in achieving favorable outcomes in patients with extensive necrosis who would have otherwise required rotational osteotomy, depending on the necrosis location. Further longitudinal studies are necessary to validate these findings and establish long-term benefits.

Microhabitat and adhesive toepads shape gecko limb morphology.

Different substrates pose varied biomechanical challenges that select specific morphologies, such as long limbs for faster running and short limbs for balanced posture while climbing narrow substrates. We tested how gecko locomotion is affected by the microhabitat they occupy and by a key adaptation-adhesive toepads-through analyzing how those are related to limb morphology. We collected microhabitat and toepads data for over 90% of limbed gecko species, and limb measurements for 403 species from 83 of the 121 limbed gecko genera, which we then used in phylogenetic comparative analyses. Our data highlight the association of adhesive toepads with arboreality, but a phylogenetic analysis shows that this relationship is not significant, suggesting that these traits are phylogenetically constrained. Comparative analyses reveal that pad-bearing species possess shorter hindlimbs and feet, more even limb lengths, and lower crus: thigh ratios, than padless geckos, across microhabitats. Saxicolous geckos have the longest limbs and limb segments. This is probably influenced by selection for long strides, increased takeoff velocity, and static stability on inclined surfaces. Terrestrial geckos have more even hind- and forelimbs than arboreal geckos, unlike patterns found in other lizards. Our findings underline the difficulty to infer on microhabitat-morphology relationships from one taxon to another, given their differing ecologies and evolutionary pathways. We emphasize the importance of key innovation traits, such as adhesive toepads, in shaping limb morphology in geckos and, accordingly, their locomotion within their immediate environment.

Polydactyl canine case: Exploring possible linkage between anomalies, secondary infertility and SHH/ALX4 mutations

AbstractThis case report details an unusual manifestation of polydactyly in a litter of purebred Caucasian puppies, where the dam exhibited polydactyl traits while the sire is suspected to have an incomplete penetrance of the trait. All littermates, except one, manifest severe postnatal mortality and displayed polydactyl at birth. Out of a litter of six puppies, only Luna survived, resulting in a mortality rate of approximately 83.33%. Luna, the surviving pup, presented with anomalies including polydactyly on both pelvic limbs, short limb development, double row teeth, thoracolumbar tenderness, anaemia and babesiosis. Furthermore, the dam also exhibited secondary infertility, which prompted a literature review on probable genetic influences. However, we suspect SHH and ALX4 mutations due to their possible interference with sonic hedgehog and Wnt/beta‐catenin signalling pathways as being causal for the observed clinical signs, particularly the role of Wnt/beta‐catenin signalling, which is crucial for reproductive organ development.

Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?

BackgroundMesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral synostoses and multiple congenital malformations which is described as a contiguous deletion syndrome involving the two genes SULF1 and SLCO5A1. The study of apparently balanced chromosomal rearrangements (BCRs) is a cytogenetic strategy used to identify candidate genes associated with Mendelian diseases or abnormal phenotypes. With the improved development of genomic technologies, new methods refine this search, allowing better delineation of breakpoints as well as more accurate genotype-phenotype correlation.Case presentationWe present a boy with a global development deficit, delayed speech development and an ASD (Asperger) family history, with an apparently balanced “de novo” reciprocal translocation [t(1;8)(p32.2;q13)dn]. The cytogenetic molecular study identified a likely pathogenic deletion of 21 kb in the 15q12 region, while mate pair sequencing identified gene-truncations at both the 1p32.2 and 8q13 translocation breakpoints.ConclusionsThe identification of a pathogenic alteration on 15q12 involving GABRA5 was likely the main cause of the ASD-phenotype. Importantly, the chr8 translocation breakpoint truncating SLCO5A1 exclude SLCO5A1 as a candidate for MSS, leaving SULF1 as the primary candidate. However, the deletions observed in MSS remove a topological associated domain (TAD) boundary separating SULF1 and SLCO5A1. Hence, Mesomelia-Synostoses syndrome is either caused by haploinsufficiency of SULF1 or ectopic enhancer effects where skeletal/chrondrogenic SULF1 enhancers drive excopic expression of developmental genes in adjacent TADs including PRDM14, NCOA2 and/or EYA1.

Genetic analysis of a fetus with Rhizomelic skeletal dysplasia

To explore the clinical features and genetic basis for a fetus featuring Rhizomelic skeletal dysplasia. A fetus diagnosed at the Reproductive and Genetic Center of Suzhou Municipal Hospital in November 2020 was selected as the study subject. Whole exome sequencing (WES) was carried out for the fetus and its parents. Candidate variants were verified by Sanger sequencing. Peripheral blood smears of both parents were also examined. The fetus was found to have a small chest and short limbs, which had suggested skeletal dysplasia. Genetic testing revealed that the fetus has harbored compound heterozygous variants of the LBR gene, including a paternally derived c.1687+1G>A and a maternally derived c.1757G>A (p.Arg586His). The blood smear of the father showed Pelger-Huet anomaly with hyposegmentation of neutrophil nuclei, while the neutrophils of the mother appeared to be normal. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP), the c.1757G>A (p.Arg586His) variant was classified as likely pathogenic (PM3_Strong+PM2_Supporting+PP3), and so was the c.1687+1G>A variant (PVS1-Moderate+PM3+PM2-Supporting+PP4). The compound heterozygous variants of the LBR gene probably underlay the pathogenesis of skeletal dysplasia in this fetus.

Natural history study of Pseudoachondroplasia: A focus on oral health.

Pseudoachondroplasia (PSACH) is a rare dwarfing condition characterized by short limbs and fingers, and multiple skeletal abnormalities/complications. There are few natural history studies delineating the medical problems in PSACH leaving a gap in many areas, especially oral health. Our study aimed to obtain information pertaining to oral health and other health-related problems (pregnancy and childbirth, skeletal health, joint pain) in patients with PSACH. To ascertain this information, an online Qualtrics survey was distributed to members of Little People of America, a support group, and through a PSACH online chatroom. Ninety-nine of 115 surveys were completed and included in the descriptive and multivariable analyses. PSACH individuals regularly sought dental care, but flossing was challenging because of short fingers. Untreated carries (5%), bleeding gums (16%) malocclusion (37%), obstructive sleep apnea (9%), and TMJ disorder (3%) occurred less frequently compared to the general population. Delivery was by Caesarean section in 100% of female respondents who delivered a baby. Bowlegs (74%), scoliosis (43%) and osteoarthritis (36%) were the most common skeletal complications. Joint pain was reported by 85% of respondents. This study provides novel insights into oral health, pregnancy and childbirth while confirming previously identified skeletal complications in PSACH. Our findings suggest that oral healthcare in PSACH presents unique challenges.

Cloaked bones in Mucolipidosis II - A periosteal reaction in newborns

On routine, antenatal ultrasound evaluation of a women at 35 weeks gestation showed a fetus (Case 1) with shortening of all the long bones (<5th percentile) with bowing and fuzzy margins. The baby was delivered full term. On physical examination, the baby had a fragile skull, narrow thorax, and short angulated limbs. Postnatal infantogram showed short long bones, periosteal cloaking, fractures, and bell shaped thorax. Another fetus (Case 2) with antenatal ultrasound done elsewhere was suggestive of short and bowed femur. At birth, the baby had angulated limbs. The infantogram shows the periosteal cloaking (thick periosteal reaction) and short long bones similar to the above-mentioned case. Both babies were positive for the I-cell screening test for Mucolipidosis II. Case 1 was confirmed for the same with whole exome sequencing.

Protein phosphatase SCP4 regulates cartilage development and endochondral osteogenesis via FoxO3a dephosphorylation.

The regulatory mechanisms involved in embryonic development are complex and yet remain unclear. SCP4 represents a novel nucleus-resident phosphatase identified in our previous study. The primary aim of this study was to elucidate the function of SCP4 in the progress of cartilage development and endochondral osteogenesis. SCP4-/- and SCP4Col2ER mice were constructed to assess differences in bone formation using whole skeleton staining. ABH/OG staining was used to compare chondrocyte differentiation and cartilage development. Relevant biological functions were analysed using RNA-sequencing and GO enrichment, further validated by immunohistochemical staining, Co-IP and Western Blot. Global SCP4 knockout led to abnormal embryonic development in SCP4-/- mice, along with delayed endochondral osteogenesis. In parallel, chondrocyte-specific removal of SCP4 yielded more severe embryonic deformities in SCP4Col2ER mice, including limb shortening, reduced chondrocyte number in the growth plate, disorganisation and cell enlargement. Moreover, RNA-sequencing analysis showed an association between SCP4 and chondrocyte apoptosis. Notably, Tunnel-positive cells were indeed increased in the growth plates of SCP4Col2ER mice. The deficiency of SCP4 up-regulated the expression levels of pro-apoptotic proteins both in vivo and in vitro. Additionally, phosphorylation of FoxO3a (pFoxO3a), a substrate of SCP4, was heightened in chondrocytes of SCP4Col2ER mice growth plate, and the direct interaction between SCP4 and pFoxO3a was further validated in chondrocytes. Our findings underscore the critical role of SCP4 in regulating cartilage development and endochondral osteogenesis during embryonic development partially via inhibition of chondrocytes apoptosis regulated by FoxO3a dephosphorylation.

Digital Technology-Assisted "Z" Osteotomy lower limb corrective procedures.

Digital technology is a transformative product of the information age. z-osteotomy is a surgical procedure that corrects limb angulation and lengthens shortening deformities within a 40 mm difference in limb length.The purpose of this study is to Introduce the surgical technique of digitally assisted "Z" osteotomy for correction of angular and length deformities of the lower limbs and investigating its clinical efficacy. A retrospective study was conducted on five patients with multiplanar angular deformities of the lower extremity combined with limb shortening(n=5). The objective of the study was to assess the effectiveness of computer-assisted preoperative design planning and 3D-printed surgical guide fabrication in guiding precise orthopedic procedures. The study compared various parameters, including femoral or tibial cross-sections, coronal and sagittal deformities, limb length, modified Barthel Index, and post-operative complications. Five patients were granted 17.20±6.83 months of follow-up after surgery, with adequate correction of lower limb deformity, significant improvement in postoperative self-care ability improved Barthel index 90±3.08 points (P<0.05). One patient experienced postoperative wound pain at 3 months, which subsequently diminished significantly by the 4-month follow-up assessment., four cases had no complications. The new surgical method of digital technology-assisted "Z" osteotomy for correction of complex deformities of the lower limbs has remarkable clinical results, can accurately correct multi-planar angular deformities and realize limb lengthening at the same time, being safe and reliable.

Metabolic outcomes in obese mice undergoing one-anastomosis gastric bypass (OAGB) with a long or a short biliopancreatic limb.

One-anastomosis gastric bypass (OAGB) has gained importance as a simple, safe, and effective operation to treat morbid obesity. We previously found that Roux-en-Y gastric bypass surgery with a long compared with a short biliopancreatic limb (BPL) leads to improved weight loss and glucose tolerance in obese mice. However, it is not known whether a long BPL in OAGB surgery also results in beneficial metabolic outcomes. Five-week-old male C57BL/6J mice fed a high-fat diet (HFD) for 8 weeks underwent OAGB surgery with defined BPL lengths (5.5 cm distally of the duodenojejunal junction for short and 9.5 cm for long BPL), or sham surgery combined with caloric restriction. Weight loss, glucose tolerance, obesity-related comorbidities, endocrine effects, gut microbiota, and bile acids were assessed. Total weight loss was independent of the length of the BPL after OAGB surgery. However, a long BPL was associated with lower glucose-stimulated insulin on day 14, and an improved glucose tolerance on day 35 after surgery. Moreover, a long BPL resulted in reduced total cholesterol, while there were no differences in the resolution of metabolic dysfunction-associated steatotic liver disease (MASLD) and adipose tissue inflammation. Tendencies of an attenuated hypothalamic-pituitary-adrenal (HPA) axis and aldosterone were present in the long BPL group. With both the short and long BPL, we found an increase in primary conjugated bile acids (pronounced in long BPL) along with a loss in bacterial Desulfovibrionaceae and Erysipelotrichaceae and simultaneous increase in Akkermansiaceae, Sutterellaceae, and Enterobacteriaceae. In summary, OAGB surgery with a long compared with a short BPL led to similar weight loss, but improved glucose metabolism, lipid, and endocrine outcomes in obese mice, potentially mediated through changes in gut microbiota and related bile acids. Tailoring the BPL length in humans might help to optimize metabolic outcomes after bariatric surgery.NEW & NOTEWORTHY Weight loss following OAGB surgery in obese mice was not influenced by BPL length, but a longer BPL was associated with improved metabolic outcomes, including glucose and lipid homeostasis. These changes could be mediated by bile acids upon altered gut microbiota. Further validation of these findings is required through a randomized human study.