Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia

Familial hypocalciuric hypercalcemia (FHH, [OMIM #145980]) is recognized as a benign endocrine condition affecting PTH and calcium levels due to heterozygous inactivating mutations in the calcium sensing receptor (CaSR). The condition is often un- or misdiagnosed but may have a prevalence as high as 74 in 100.000. Here, the neonatal courses of two brothers with paternally inherited FHH (CaSR c.554G>A; p.(Arg185Gln)) are described. The older brother was born preterm at 25 weeks gestation with hypercalcemia and hyperparathyroidism. The younger brother, born full-term, had severe hyperparathyroidism, muscular hypotonia, thrombocytopenia, failure to thrive and multiple metaphyseal fractures. Treatment with cinacalcet was initiated, which resulted in subsequent reduction of PTH levels and prompt clinical improvement. While it is known that homozygous mutations in CaSR may lead to life-threatening forms of neonatal severe hyperparathyroidism (NSHPT), few reports have described a severe clinical course in neonates with FHH due to heterozygous mutations. However, based on the pathophysiological framework, in de novo or paternally transmitted FHH the differing calcium needs of mother and fetus can be expected to induce fetal hyperparathyroidism and may result in severe perinatal complications as described in this report. In summary, FHH is a mostly benign condition, but transient neonatal hyperparathyroidism may occur in affected neonates if the mutation is paternally inherited. If severe, the condition can be treated successfully with cinacalcet. Patients with FHH should be informed about the risk of neonatal disease manifestation in order to monitor pregnancies and neonates.

Management of Tibial Metaphyseal Fractures Using JESS Fixator

Introduction: The management of proximal and distal tibia fractures remains challenging due to associated soft tissue injuries. The use of wire fixators for the definitive treatment of such fractures entails a minimally invasive technique of insertion that gives good fracture reduction and stability combined with minimal postoperative complications. Aim: To assess the outcome of treatment of such fractures by the use of Joshi’s external stabilization system (JESS), which is a simple wire based, circular external fixator system. Materials and Methods: A prospective, uncontrolled study was done using JESS on 30 consecutive patients (20 patients of proximal tibial metaphyseal fractures and 10 of distal tibial metaphyseal fractures). Results: In our study, the most common mode of injury was road traffic accidents (21 cases), fall from height (6 cases) and slip injury (3 cases). The patients were operated at a mean interval of 3.2 days (range 1-6 days) due to associated poor soft tissue conditions. The patients were followed up for 24 weeks. Full weight bearing was allowed at 10 to 14 weeks. JESS frame was removed at mean duration of 13 weeks (range 12-16 weeks). According to knee society score (KSS), excellent result (score 80- 100) was seen in 12 patients (60%), good result (score 70-79) was seen in 4 patients (20%), fair result (score 60-69) in 3 patients (15%) and poor result (score <60) in 1 patient (5%) of proximal tibial metaphyseal fracture. According to Olerud and Molander score (OAMS), excellent result (score 91-100) was seen in 5 patients (50%), good result (score 61-90) in 3 patients (30%) and fair result (score 31-60) in 2 patients (20%) of distal tibial metaphyseal fracture. The complication seen was superficial pin tract infection in 4 patients, which was managed by regular pin tract dressing and oral antibiotics. Delayed union (mean at 15.3 weeks) was seen in 2 patients with Schatzker type VI fracture and 1 patient with severe comminuted distal metaphyseal fracture. Conclusion: JESS is a simple, light, effective and cheap method and can be used as a definitive procedure to treat these fractures even with soft tissue compromise.

Functional outcome of proximal 1/3rd, distal 1/3rd and diaphysial tibial fractures in adults operated with expert tibial nailing

<p class="abstract"><strong>Background:</strong> Fractures of the tibial shaft are increasing due to high velocity trauma and industrialisation. Not only they are common but also difficult to treat. Until recently surgeons had to rely on non-operative treatment, V nailing, plates and screws and external fixator but they had their drawbacks like prolonged immobilisation infection, delayed union and non-union. Numerous modifications in nail and screw design have led to development of the expert tibial nail. Multidirectional interlocking screws ensure that alignment can be well maintained and stability preserved in short proximal or distal tibial segments.</p><p class="abstract"><strong>Methods:</strong> 30 patients were admitted and operated during September 2014 to September 2016 in Mamata general hospital Khammam. All patients were evaluated with Klemm Borner’s criteria and complications following surgery.<strong></strong></p><p class="abstract"><strong>Results:</strong> 87% of patients achieved good or excellent results, fair results were obtained in 3 (10%) patient and poor result in one (3%) patient. 2 (6%) patients had malunion, 2 (6%) patients had delayed union, 1 (3%) patient had deep infection led to implant failure.</p><p class="abstract"><strong>Conclusions:</strong> Intramedullary nailing is a safe and effective technique for the treatment of tibial metaphyseal fractures. It avoids the additional soft-tissue dissection associated with traditional open procedures as well as the complications associated with external fixators. Expert tibial nail can give excellent functional and clinical results. Complications such as failure of the bone-implant construct or post-operative malallignment are avoidable if careful pre-operative planning is allied with meticulous surgical technique.</p>

The use of ‘blocking’ screws for the ‘closed’ reduction of difficult proximal and distal femoral fractures

Most meta-diaphyseal femoral fractures that are treated with intramedullary nailing can be reduced satisfactorily by skeletal traction without ‘opening’ the fracture site and therefore, complications such as nonunion, infection and wound healing problems are reduced. In cases where adequate fracture reduction cannot be achieved by skeletal traction, ‘reduction aids’ have been used during the operative procedure in order to avoid the exposure of the fracture site. The ‘blocking’ screw, as a reduction tool, was proposed initially for the ‘difficult’ metaphyseal fractures of the tibia. Subsequently, surgeons have tried to implement the ‘blocking’ screw technique in ‘difficult’ distal femoral fractures. This article presents the ‘blocking’ screw technique as an adjunctive process in the management of fractures of the proximal and distal femur which are found to be non-reducible by skeletal traction alone. The minimal invasiveness of the technique contributes greatly to the preservation of both the soft tissue integrity and the fracture haematoma and thus reduces the major complications that can occur by exposing the fracture site. Cite this article: EFORT Open Rev 2021;6:451-458. DOI: 10.1302/2058-5241.6.210024

Study on management of extra articular distal tibial metaphyseal fractures by intramedullary interlocking nailing

<p><strong>Background:</strong> Fractures of the tibia remain a controversial subject despite advances in both non-operative and operative care. The goal in expert care is to realign the fracture, realign limb length, and early functional recovery. To analyze the short-term results of intramedullary interlocking nailing in the management of extra-articular distal tibial metaphyseal fractures done.</p><p><strong>Methods</strong>: This is a prospective comparative on-randomized study of 28 patients with distal tibial metaphyseal fractures in govt. dist. headquarters hospital Nagapattinam with a follow-up ranging from September 2018 to january 2019 4 months. Injury With more than 3 weeks, nonunion, and patient with multiple injuries or a history of previous knee or ankle pathology were not included as were patients who sustained high energy axial load injury-causing disruption or impaction of the ankle plafond.</p><p><strong>Results: </strong>The average distance between the distal tip of the nail and the articular surface of the plafond was 12 mm (range, 4 to 15 mm). Fibular plating was done in 10 patients. Two distal locking bolts were used in 26 patients; 2 patients had three distal locking bolts.</p><p><strong>Conclusions:</strong> Intramedullary nailing is a safe and effective technique for the treatment of extra-articular distal metaphyseal tibial fractures if careful preoperative planning is allied with the meticulous surgical technique.</p>

Outcome Analysis of Intramedullary Nailing Augmented with Poller Screws for Treating Difficult Reduction Fractures of Femur and Tibia: a Retrospective Cohort Study

Purpose. Poller screws may serve as an adjunctive reduction tool and aid fracture reduction while augmented with intramedullary (IM) nailing for treating diaphyseal or metaphyseal fractures of the femur and tibia. However, there is no consistent conclusion about whether the method of using IM nailing augmented with poller screws is more advantageous than using IM nailing alone. Methods. A total of 96 patients who received IM nailing with or without supportive poller screw for treating long-bone fractures in lower limbs and who experienced difficulties in performing reduction or IM insertion during the surgical process were included in this retrospective cohort study (33 patients with poller screws in group A versus 63 patients without poller screws in group B). Patient demographics including age, gender, and body mass index; injury-related data including fracture location, classification, and injury mechanism; operation-related data including American Society of Anesthesiologists, duration of operation, poller screw time, method of anesthesia, and volume of intraoperative hemorrhage; outcomes including fracture healing time; and incidence of outcomes of nonunion, malunion, infection, and secondary surgical procedures were evaluated. Results. Fracture healing time of patients in group A was significantly shorter than that of group B ( 18.3 ± 4.8 weeks versus 24.3 ± 3.0 weeks, p = 0.023 ). Union rate was higher (100.0% versus 87.3%, p = 0.048 ), and malunion rate and secondary surgical procedure rate were lower (both are 3.0% versus 19.0%, p = 0.031 ) in group A than that of group B. Conclusion. Poller screw augmentation of IM nailing is a favourable option to shorten fracture healing time and to reduce complication rates in terms of nonunion, malunion, and secondary surgical procedure in the treatment of both diaphyseal/metaphyseal fractures of the femur or tibia while compare with those treated by IM nailing alone.

Long bone fractures in Cerdocyon thous: macroscopic and microstructural evaluation

The aim of the present study was to perform the macroscopic and microstructural morphological classification of long bone fractures of Cerdocyon thous. Eighteen cadavers of the species were necropsied, and subjected to radiographic and microscopical evaluation when long bone fractures were detected. Among the 18 cadavers, eight (44%) had fractures equally distributed (33.33%) in the femur, humerus, or tibia. More frequently (61.54%), the fractures were simple and affected the diaphysis, and in smaller proportions (23.08%) reached the physeal line. In diaphyseal and metaphyseal fractures, microscopical evaluation revealed cortical bone tissue, with longitudinal osteons that contained longitudinal and intermediate collagen fibres and lamellae with a delamination aspect. On the other hand, in epiphyseal fractures, trabecular bone tissue was more frequently observed, consisting of trabeculae with disorganised collagen fibres and absence of osteons. In both cases low activity, osteocytes, and low coverage of osteoblasts on the bone surface were noted. It was concluded that the frequency of fractures in the long bones of C. thous was 44%, with females being more predisposed. The findings support the hypothesis that fractures in such animals are caused by being run over by automobiles. The present study contributes significantly in alerting clinicians and surgeons to the types of fractures that C. thous is more predisposed to, its places of greatest occurrence, and its microstructure. Thus, there is a need for joint actions aimed at reducing the number of cases of wild animals being run over by automobiles.