Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay.

Background: Heterozygous variants in (), encoding an essential and ubiquitously expressed cation channel, may cause hypomagnesemia, but current evidence is insufficient to draw definite conclusions and it is unclear whether any other phenotypes can occur.

Methods: Individuals with unexplained hypomagnesemia underwent whole-exome sequencing which identified variants. Pathogenicity of the identified variants was assessed by combining phenotypic, functional and analyses.

Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.

Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to understand the genotype-phenotype relationship in affected individuals with CNNM2 variants by phenotypic, functional and structural analysis of new as well as previously reported variants. This results in the identification of seven variants that significantly affect CNNM2-mediated Mg transport.

IntAct: A nondisruptive internal tagging strategy to study the organization and function of actin isoforms.

Mammals have 6 highly conserved actin isoforms with nonredundant biological functions. The molecular basis of isoform specificity, however, remains elusive due to a lack of tools. Here, we describe the development of IntAct, an internal tagging strategy to study actin isoforms in fixed and living cells.

Removal of a Bent Humeral Intramedullary Nail: A Case Report and Review of Removal Techniques.

Case: We present a case of a (65°) bent intramedullary nail (IMN) in a humerus after a pseudoarthrosis in a 65-year-old man. Bent IMNs have been described in femurs and tibias, but are considered rare. Possibly even rarer is the bending of a humeral IMN.

Genetic and drug-induced hypomagnesemia: different cause, same mechanism.

Magnesium (Mg2+) plays an essential role in many biological processes. Mg2+ deficiency is therefore associated with a wide range of clinical effects including muscle cramps, fatigue, seizures and arrhythmias. To maintain sufficient Mg2+ levels, (re)absorption of Mg2+ in the intestine and kidney is tightly regulated.

Retrograde intramedullary nailing for humeral midshaft fractures : a retrospective cohort study.

This study evaluates the patient-reported functional outcome, clinical functional outcome and frequency of complications of simple oblique and transverse humeral midshaft fractures treated with a retrograde expert humeral nail. A retrospective cohort study of humeral midshaft fractures (AO 12-A2, 12-A3) treated with retrograde nailing between January 2010 and February 2018 in a level II trauma center was performed. Patients' perception of functional outcome was measured using the Disabilities of the Arm, Shoulder and Hand (DASH) scores.

Hoffa fracture accompanied by dissection of the popliteal artery.

After a high-energy trauma, a 37-year-old motorcyclist presented to the emergency ward with a Hoffa fracture of the lateral femoral condyle of the right knee. Following admission, the patient developed a pale, cold and pulseless right foot. CT angiography scan showed a 5 cm dissection of the popliteal artery.

Correction to: Intramedullary screw fixation for simple displaced olecranon fractures.

The original version of this article unfortunately contained some mistakes. The spelling of the Willem Maarten P. F.

Nonunion of the Capitate due to Delayed Diagnosis of an Isolated Fracture: A Case Report.

Case: A 14-year-old girl was diagnosed with nonunion of an isolated capitate fracture 5 months after she first presented to the emergency department. The fracture of the capitate was treated by cancellous proximal bone graft and screw fixation. This current case provides details of the surgical fixation method and long-term functional outcome after nonunion of an isolated capitate fracture after a follow-up of 18 months following fixation.

Intramedullary screw fixation for simple displaced olecranon fractures.

Purpose: Olecranon fractures are common and typically require surgical fixation due to displacement generated by the pull of the triceps muscle. The most common techniques for repairing olecranon fractures are tension-band wiring or plate fixation, but these methods are associated with high rates of implant-related soft-tissue irritation. Another treatment option is fixation with an intramedullary screw, but less is known about surgical results using this strategy.

Proximal tibiofibular joint dislocation: a rare entity.

A 37-year-old woman was diagnosed with an isolated proximal tibiofibular joint dislocation (PTJD) after an accident during gymnastic exercise. The dislocation has a low incidence rate and is often missed in the emergency department as physical and radiology signs are subtle. Treatment consists of closed or open reduction and immobilisation.

[Complete triceps tendon rupture; a rare tendon injury].

Only 1% of all tendon injuries affect the triceps tendon, making triceps ruptures very rare. An acute rupture can therefore easily be missed due to a low degree of suspicion. A palpable gap, inability to flex the elbow against resistance and a positive modified Thompson test are indicative for a complete triceps tendon rupture.

[A boy with a twisted knee].

A 14-year-old boy presented with a painful knee following a distorsion. He was unable to actively extend his lower leg. Conventional radiography showed no signs of a fracture.

Paediatric forearm fracture with a twist: a proximal radioulnar translocation combined with radial head fracture.

A 10-year-old girl presented to the emergency department with proximal radioulnar translocation and radial head fracture, after fall onto an outstretched hand. Open reduction was used to reduce and stabilise the elbow joint after which the radial head was fixated by Kirschner wires. Three months after surgery, full range of motion was regained and union of the radial head was achieved.

A Peculiar Case of a Floating Angio-Seal.

Purpose: To show a complication of the use of an Angio-Seal™ closure device.

Case: We present a patient with a systolic murmur in his femoral artery after PCI. The murmur was caused by a dislocated Angio-Seal™, a vascular closure device.

An avulsion fracture of the calcaneal tuberosity: delay of treatment causes the 'Achilles heel' of optimal recovery.

A 72-year-old woman was diagnosed with an avulsion fracture of the tuberosity of the calcaneus. The fracture was planned for elective fixation 12 days after the accident. The planned open reduction and internal fixation was not possible due to a decubital wound on the Achilles heel as a result of pressure on the skin of the fractured tuberosity.

Gastric perforation due to foreign body ingestion mimicking acute cholecystitis.

An 82-year-old man presented with signs and symptoms that were suggestive of acute cholecystitis. He underwent a laparoscopic cholecystectomy. During the intervention, a wooden foreign body was removed from the infiltrated omentum, probably after it had perforated the gastric antrum.

Pathological fractures in a patient with chronic lymphatic leucaemia without disease progression.

We describe a case of a 59-year-old woman with a medical history of upper leg pain and chronic lymphatic leucaemia (CLL), with known diffuse bone marrow infiltration and without signs of lymphatic or extra-lymphatic disease activity on positron emission tomography CT (PET-CT). She presented with multiple fractures of the pelvis, sacrum and left proximal femur as a result of a low energy fall. During admission, she sustained a non-traumatic fracture of the right proximal femur.

Necrotising fasciitis due to an infected sebaceous cyst.

The current case presents a patient who was admitted to our hospital with the diagnosis of cellulitis of the right groin. In the following days, the patient's condition deteriorated and developed a septic shock. Exploration in the operating room showed a necrotising fasciitis of the adductor muscles, with an infected sebaceous cyst in the inguinal crest as port d'entrée.

Cystic schwannoma of the recurrent laryngeal nerve: a rare finding posing diagnostic difficulties.

A 49-year-old woman with a painless mass in the neck was examined by the surgeon. Imaging and cytology prior to surgery suggested the mass to be either a thyroid cyst or a branchial cleft cyst. After surgery, the patient reported a hoarse voice and the pathologist confirmed the removed lesion to be a cystic schwannoma of the left recurrent laryngeal nerve.