Hereditary Disorders of Cardiovascular Calcification.

Arterial calcification is a common phenomenon in the elderly, in patients with atherosclerosis or renal failure and in diabetes. However, when present in very young individuals, it is likely to be associated with an underlying hereditary disorder of arterial calcification. Here, we present an overview of the few monogenic disorders presenting with early-onset cardiovascular calcification. These disorders can be classified according to the function of the respective disease gene into (1) disorders caused by an altered purine and phosphate/pyrophosphate metabolism, (2) interferonopathies, and (3) Gaucher disease. The finding of arterial calcification in early life should alert the clinician and prompt further genetic work-up to define the underlying genetic defect, to establish the correct diagnosis, and to enable appropriate therapy.

Singleton-Merten syndrome: A rare cause of femoral head necrosis.

Singleton-Merten syndrome (SMS) is a type I interferonopathy. In this report, we disclose the first-to the best of our knowledge-direct association of SMS with femoral head necrosis (FHN). The following case report presents the condition of a 38-year-old male suffering from SMS with FHN, characterized by acute symptoms and rapid disease progression. As per the recommendations of the Association Research Circulation Osseous (ARCO) and the S3-guidelines, we successfully treated the FHN with core decompression. Our histological results correlate with the changes described in medical literature in patients with SMS and MDA5-knockout in vivo experiments such as osteopenia, widened medullary cavity, and thin cortical bone. Moreover, the conducted immunohistochemistry shows strong CD56 positivity of the osteoblasts and osteocytes, as well as significant CD68 and CD163 positivity of the middle-sized osteoclasts. Collectively, these findings suggest an underlying syndrome in the FHN. A six-month post-operative follow-up revealed complete recovery with the absence of the initial symptoms and ability to resume normal daily activities. Taken together, our findings suggest that SMS is an additional cause of FHN in young adults. Early detection and adequate treatment using well-established joint-preserving techniques demonstrate a favorable improvement of the patient's clinical condition.

Masticatory muscle tendon-aponeurosis hyperplasia exhibits heterotopic calcification in tendons.

OBJECTIVE: Masticatory muscle tendon-aponeurosis hyperplasia is a new disease entity associated with limited mouth opening. In this study, we analyzed the microstructural characteristics of muscles and tendons in masticatory muscle tendon-aponeurosis hyperplasia by electron microscopy and energy-dispersive X-ray analysis to determine the elemental composition. METHODS: Histological analysis was performed to detect the calcification. Transmission electron microscopy and scanning electron microscopy were conducted to clarify the microstructural characteristics of muscles and tendons. Energy-dispersive X-ray microanalysis was performed to identify the distribution of elements. RESULTS: Mineralized nodules were observed in tendon tissues of masticatory muscle tendon-aponeurosis hyperplasia as compared with facial deformity. Electron microscopy revealed that the muscle and tendon tissues in masticatory muscle tendon-aponeurosis hyperplasia showed degenerative changes and distinctive histological findings as compared with tissues in facial deformity. We found that Ca, P, and Si were detected only in masticatory muscle tendon-aponeurosis hyperplasia. CONCLUSION: We demonstrated that masticatory muscle tendon-aponeurosis hyperplasia exhibits heterotopic calcification in tendon tissues.

A case report of central core disease with repeated foaming at the mouth as the initial symptom.

BACKGROUND: Central core disease (CCD) is a congenital myopathy primarily observed in infants and children. It frequently manifests as limb weakness or delayed motor development, characterized by gradually progressing or non-worsening weakness and muscle atrophy primarily affecting the proximal limbs. Joint deformity is a prevalent clinical feature. Presently, there is no targeted treatment available for this condition. CASE DESCRIPTION: The infant, who was 42 days old, showed a repeated occurrence of foaming at the mouth for more than a month as the initial symptom. Initially, the local clinic misdiagnosed it as softening of the thyroid cartilage. However, when the infant underwent bronchoscopy at our hospital, it was discovered that the pharyngeal muscle was loose, and there was noticeable retraction of the base of the tongue. Additionally, the infant displayed evident hypotonia and an increase in creatine kinase levels. By conducting a thorough genetic examination, we confirmed that the infant had CCD. CONCLUSION: The onset of CCD may manifest as various symptoms. Medical practitioners need to be attentive in recognizing individuals who experience recurring pneumonia along with reduced muscle tone during the course of clinical diagnosis and treatment.

Obstructive parotitis secondary to an acute masseteric bend.

AIMS: To investigate 3 cases of chronic parotitis secondary to an acute bend in Stensen's duct caused by an enlargement of the masseteric space. RESULTS: Three female patients presented with symptoms consistent with obstructive parotitis including glandular swelling and tenderness during meals. A 10-year-old patient had unilateral facial swelling with enlargement of the masseter muscle and mandible later diagnosed as fibrous dysplasia. Salivary endoscopy showed an acute bend in Stensen's duct secondary to a mass effect. The patient's parotid swelling resolved following debulking of the mandibular mass and sialendoscopy with irrigation. Two adult patients with bilateral parotid involvement presented with bilateral masseteric hypertrophy and dental wear facets consistent with bruxism. Salivary endoscopy revealed bilateral kinking of Stensen's duct with jaw closure. Both patients improved symptomatically following nightly bite guard use and ultrasound-guided Botox injections of the masseter muscle and parotid. CONCLUSION: Obstructive parotitis is rarely caused by an acute masseteric bend. Diagnosis of a kinking Stensen's duct is aided with salivary endoscopy and imaging to determine the precipitating pathology. In the case of masseteric hypertrophy, symptomatic improvement can be achieved with Botox-induced atrophy of masseteric hypertrophy or with surgical reduction for associated fibrous dysplasia.

Sportmedizinische Beratung nach akuter Rhabdomyolyse bei erblicher Myopathie ­ eine herausfordernde Leistungsdiagnostik.

INTRODUCTION: Increased serum creatinine kinase after physical activity is well known and there is currently no cut-off value. We present the systematic diagnosis after rhabdomyolysis in a rare cause. HISTORY: A 36-year-old soldier developed acute kidney failure due to rhabdomyolysis after intense physical exertion. FINDINGS AND DIAGNOSIS: Sporty habitus, CK elevation and highly normal kidney values. Massive CK increase after step loading on the bicycle ergometer. We stopped further physical stress and initiated diagnostics. THERAPY AND COURSE: The genetic diagnosis found a hereditary myopathy of the lipid metabolism (VLCAD deficiency). We used individualized performance analysis to determine the safe load limit. In the ordinary athletic testing of these performance limits, no excessive CK activation could be determined. CONCLUSION: Recurrent rhabdomyolyses characterize the late onset of VLCAD, which can occur after intense physical activity, periods of fasting or dehydration. Patients can continue physical exercise safely after determining the individual tolerance.

[Chronic orofacial pain (OFP) of different origin. A case report]. / Chronischer Gesichtsschmerz unterschiedlicher Genese. Ein Fallbericht.

INTRODUCTION: Therapy of chronic orofacial pain (OFP) is often a challenge since OFP can be triggered by numerous medical conditions. Pulpitis is frequently related to acute OFP, only in rare cases pulpitis elicits chronic OFP e. g. due to a cracked tooth. Hypertrophy of masticatory muscles can also cause pain. While this pathosis is easily diagnosed, hypertrophy of masticatory muscles is challenging to treat. METHODS: The presented case demonstrates a combination of a cracked tooth and a symtomatic hypertrophy of the masseteric muscle in a 19-year old patient. The patient suffered from diffuse chronic OFP for more than four month. After diagnosis an interdisciplinary step-by-step treatment plan was realized with re-evaluation and adjustment. RESULTS: After physiotherapy and medicamentous pain control intramuscular injection of Botolinum toxin type-A was performed with remission of the muscle hypertrophy but only partial success regarding pain control. After root canal treatment of a cracked tooth the patient was free of symptoms. CONCLUSION: The high degree of specialization in dental medicine requires a multidisciplinary approach for OFP not thoroughly responding to therapy. Stepwise diagnostics and treatments are recommended to clarify the pathology and to address multiple causes of disease.

Dysphagia in adult myopathies.

Dysphagia (impaired swallowing) is not a rare problem in various neuromuscular disorders, both in the pediatric and the adult patient population. On many occasions such patients are first presented to other medical specialists or health professionals. Disorders of deglutition are probably underrecognized in patients with a neuromuscular disease as a result of patient's and doctor's delay. This review will focus on dysphagia in adults suffering from a myopathy. Dysphagia in myopathies usually affects the oropharyngeal phases which rely mostly on voluntary muscle activity of the mouth, pharynx and upper esophageal sphincter. Dysphagia is known to contribute to a reduction of quality of life and may also lead to increased morbidity and mortality. The review includes an overview on symptomatology and tools of assessments, and elaborates on dysphagia in specific hereditary and acquired myopathies.

Neuromuscular disease and respiratory failure.

Neurologists should be able to anticipate and recognise the onset of respiratory failure in patients with neuromuscular disorders. Symptoms will differ depending on the speed of onset of the respiratory muscle weakness. Careful monitoring of respiratory function is particularly important in acute disorders such as Guillain-Barré syndrome. Patients with an unrecognised neuromuscular disorder may occasionally present with respiratory failure. Important investigations include vital capacity, mouth pressures, arterial blood gases, chest x ray and sometimes overnight respiratory monitoring. Patients with Guillain-Barré and other acute conditions may require short-term ventilatory support in the intensive care unit. Patients with some chronic disorders, such as motor neuron disease and Duchenne dystrophy, can be successfully treated with non-invasive ventilation, usually in collaboration with a respiratory physician. New-onset weakness of limb and respiratory muscles in the intensive care unit is usually due to critical illness myopathy or critical illness polyneuropathy, and treatment is supportive.

Postural alterations as a risk factor for temporomandibular disorders.

The aims of this study were to estimate frequency and assess postural alterations as a risk factor for temporomandibular disorders (TMD). Patients aged 10 to 15years (N=243, mean age 12. 6) seeking comprehensive dental care were analyzed according to RDC/ TMD. For static postural assessment, photographs were taken and analyzed by a physiotherapist following Kendall's model. Patients were divided into: A: without TMD (n=133); B: with muscle disorders (n=61); C: with disk displacement (N=49). No difference in age wasobserved between groups (p=0. 95). Significant association was observed between muscular TMD and alterations in spinal curves, head posture, and lower limbs: OR: 3. 40, 2. 44 and 2. 22 respectively. The most frequent types were hyperlordosis 23. 30 and 32. 78%; forward head posture 39. 85 and 52. 45%; and genu valgum 33. 08 and 45. 90% in A and B respectively. Alterations in head posture, vertebral curves and lower limbs could be considered risk factors for muscular TMD. The most frequent postural alterations were lumbar hyperlordosis, forward head posture and genu valgus.

Los objetivos de este estudio fueron estimar la frecuencia y evaluar las alteraciones posturales como factor de riesgo para trastornos temporomandibulares (TTM). Se evaluaron pacientes de 10 a 15 años (N= 243, edad media 12. 6) que concurrieron para atención odontológica integral utilizandolos protocolos CDI/TTM años. La evaluación postural estática, se j realizó mediante fotografías analizadas por un fisioterapeuta siguiendo el modelo de Kendall. Los pacientes se dividieron en f diferentes grupos según el diagnóstico: A: sin TTM (n = 133); B: con trastornos musculares (n = 61) y C: con desplazamiento del disco (n = 49). No se observaron diferencias entre los grupos en la edad (p = 0, 95). Se observó asociación significativa entre TTM muscular y alteraciones en las curvas espinales, la postura de la cabeza y los miembros inferiores: OR: 3, 40, 2, 44 y 2, 22 respectivamente. Los tipos más frecuentes fueron hiper-lordosis lumbar 23, 30 y 32, 78%; anteversión cefálica 39. 85 y 52. 45%; y genu valgum 33, 08 y 45, 90% en A y B, respectivamente. Las alteraciones en la postura de la cabeza, las curvas vertebrales y los miembros inferiores podrían considerarse factores de riesgo para los TTM musculares. Las alteraciones posturales más frecuentes fueron hiperlordosis lumbar, anteversión cefálica y genu valgo.

Are female patients with orofacial pain medically compromised?

BACKGROUND: Chronic pain has been linked to various medical conditions. The authors assessed whether certain medical conditions are more prevalent in female patients with orofacial pain than in age-matched controls. METHODS: The study sample consisted of 87 female adult subjects from a university-based orofacial pain center (OPC) and 87 age-matched female subjects from a university-based undergraduate dental clinic (UDC). Subjects were evaluated between February 2003 and July 2003, and they completed a standardized, 78-question medical history questionnaire as part of routine clinical protocol. Using the subjects' medical histories, the authors compared 11 major medical categories and 77 individual conditions for both groups. For statistical analyses, the authors used nonparametric Kolmogorov-Smirnov Z tests and chi2 tests and calculated odds ratios (ORs). RESULTS: The medical histories of subjects in the OPC group indicated a significantly greater number of medical conditions than did those of the subjects in the UDC group (Z = -4.411, P < .0001). Specifically, subjects in the OPC group reported having significantly more neurological (Z = -5.304, P < .0001), gastrointestinal (Z = -2.897, P = .004), pulmonary (Z = -2.298, P = .022), dermatologic (Z = -2.984, P = .003) and other conditions (Z = -2.885, P = .004) than did subjects in the UDC group. Subjects in the OPC group reported having 12 individual medical conditions significantly more often (P < .05, ORs ranged from 2.5 to 9.7) than did subjects in the UDC group. CONCLUSIONS: Female patients with orofacial pain complaints appear to have more systemic problems than do female patients seeking routine dental care. CLINICAL IMPLICATIONS: The presence of multiple medical conditions can influence orofacial pain management options and treatment outcomes. Patients with more medically complicated orofacial pain may require treatment on a multidisciplinary basis.

Is there a relationship between chronic bladder dysfunction and somatic symptoms in other body regions? 1. Clinical observations.

OBJECTIVE: Investigation of patients with chronic bladder dysfunction regarding associated general symptoms and complaints in the cervico-facial, upper and lower extremity regions. PATIENTS AND METHODS: We retrospectively evaluated history, physical and special neurourological examination and urodynamic studies in 213 patients with non-neurogenic bladder dysfunction. RESULTS: 22 patients out of 213 patients with chronic bladder dysfunction reported reproducible associated symptoms involving the temporo-mandibular joint, the distal forearm/hand or feet and headache. There was an obvious clinical connection regarding the severity of bladder dysfunction and associated symptoms and possible relief of both by successful treatment. CONCLUSION: Symptomatic lower urinary tract dysfunction may accompanied by specific muscular and or sensory disturbances in different areas of the body. These associated pathologies in patients without neurological disease can be explained by functional changes in a complex autonomic peripheral and central nervous network.

The influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder. CMT1 is primarily demyelinating, CMT2 is primarily axonal, and CMTX1 is characterized by both axonal and demyelinating abnormalities. We investigated the role of somatosensory and muscular deficits on quiet standing and postural stabilization in patients affected by different forms of CMT, comparing their performances with those of healthy subjects. Seventy-six CMT subjects (CMT1A, CMT2 and CMTX1) and 41 healthy controls were evaluated during a sit-to-stand transition and the subsequent quiet upright posture by means of a dynamometric platform. All CMT patients showed altered balance and postural stabilization compared to controls. Multivariate analysis showed that in CMT patients worsening of postural stabilization was related to vibration sense deficit and to dorsi-flexor's weakness, while quiet standing instability was related to the reduction of pinprick sensibility and to plantar-flexor's weakness. Our results show that specific sensory and muscular deficits play different roles in balance impairment of CMT patients, both during postural stabilization and in static posture. An accurate evaluation of residual sensory and muscular functions is therefore necessary to plan for the appropriate balance rehabilitation treatment for each patient, besides the CMT type.

Atypical nemaline myopathy with temporomandibular ankylosis.

A young girl who initially presented with jaw hypomobility at age 4 years subsequently developed signs of a slowly progressive myopathy. Rods were found in all sampled muscles, and were associated with fibrous contractures in the temporomandibular joint muscles. Rods in fibers undergoing necrosis displayed a pattern of degradation that was almost identical to the pattern induced by calcium-activated neutral protease in vitro. It appears that this patient had nemaline myopathy, atypical in both clinical presentation and pathologic lesions.

Perceived inspiratory difficulty in neuromuscular patients with primary muscle disorders.

Intensity of perceived inspiratory difficulty was investigated in 17 patients with severe respiratory insufficiency due to muscle disease, compared with healthy matched controls. Subjects breathed through a threshold valve generating a constant inspiratory negative pressure proportional to their maximal inspiratory pressure. Four load levels ranging from 10 to 40% of the maximal inspiratory pressure were applied in random order. Patients had significantly less perceived inspiratory difficulty than controls at each load level expressed as a percentage of maximal inspiratory pressure P < 0.001. However, when the load was expressed as the absolute value, the slope of the Borg scale score versus mouth pressure was similar in the two groups (P = 0.11). The ventilatory pattern remained unchanged in each group as the load increased. We conclude that in patients with myopathy, loads leading to respiratory muscle fatigue (40% of maximal inspiratory pressure) may fail to produce perceived inspiratory difficulty.

Scintigraphic imaging of bacterial and fungal infection in granulocytopenic rats.

UNLABELLED: Scintigraphic imaging in granulocytopenic patients can be very useful to detect and localize infections, which often do not show localizing signs and symptoms. We studied the potential of 99mTc-labeled polyethylene glycol (PEG)-coated liposomes and 99mTc-labeled IgG to image bacterial and fungal infection in a granulocytopenic rat model. 67Ga-citrate was used as a reference agent. METHODS: 99mTc-PEG-liposomes, 99mTc-hydrazinonicotinate (HYNIC)-IgG or 67Ga-citrate was administered to granulocytopenic rats with a Staphylococcus aureus abscess or with unilateral invasive pulmonary aspergillosis. Imaging and biodistribution studies were performed. RESULTS: All agents visualized the S. aureus infection from 1 h after injection onward. However, only with 99mTc-PEG-liposomes and with 99mTc-HYNIC-IgG did activity in the infectious foci increase with time up to 24 h. 99mTc-PEG-liposomes and 99mTc-HYNIC-IgG showed significantly higher accumulation in the infectious focus compared with 67Ga-citrate (1.33+/-0.31 and 1.40+/-0.16 percentage injected dose per gram [%ID/g], respectively, versus 0.31+/-0.04 %ID/g 24 h after injection; P<0.05). At 24 h after injection, abscess-to-muscle ratios were highest for 99mTc-liposomes (72.1+/-19.1), followed by 99mTc-HYNIC-IgG (18.3+/-3.3) and 67Ga-citrate (4.4+/-0.7). In pulmonary aspergillosis, both 99mTc-PEG-liposomes and 99mTC-HYNIC-IgG showed significantly higher uptake in the infected lung than did 67Ga-citrate (3.6+/-0.4 and 8.3+/-0.8 %ID/g, respectively, versus 1.3 %ID/g at 24 h after injection; P<0.05). CONCLUSION: 99mTc-PEG-liposomes and 99mTc-HYNIC-IgG performed better than did 67Ga-citrate in the localization of peripheral bacterial infection and fungal infection in the lung in granulocytopenic rats. The high focal uptake and high target-to-nontarget ratios of 99mTc-PEG-liposomes and 99mTc-HYNIC-IgG indicate that both radiopharmaceuticals may become valuable agents to image infection in granulocytopenic patients.

Thrombotic thrombocytopenic purpura as a complicating factor in a case of polymyositis and Sjögren's syndrome.

A 62-year-old woman was admitted for evaluation of muscular weakness, skin pigmentation, dry mouth, and interstitial pneumonia. During the course of her stay, adult respiratory distress syndrome, hemolytic anemia, renal failure, neurologic dysfunction, and thrombocytopenia appeared. A clinical diagnosis of thrombotic thrombocytopenic purpura (TTP) accompanied by polymyositis and Sjögren's syndrome was made. She died two weeks after the beginning of plasmapheresis, and an autopsy was performed. Immunohistochemistry disclosed deposits of IgM, fibrinogen, and C1q in glomeruli and arterioles and deposits of C3 in small arteries. von Willebrand's factor antigen, which promotes the adhesion of platelets to the subendothelium, was positive in onion-peeled arteries of the kidney and the spleen. These results suggest that immune complexes may have triggered a sequence of events from vascular endothelial injury to TTP.

A questionnaire survey of muscular symptoms in chronic headache. An age- and sex-controlled study.

In a questionnaire survey we determined the prevalence and intensity of muscular symptoms in a group of chronic headache sufferers as compared with age- and sex-matched controls. The muscular symptoms studied were tightness and soreness of the neck, shoulder, and jaw muscles. Muscle tightness was reported significantly more frequently in the headache than in the control group, but only for the neck muscles (48.6 vs. 29.9%; p less than 0.01). When headache was present, the prevalence of neck muscle tightness in the headache group significantly increased further to 68.8% (p less than 0.001) and that of jaw muscle tightness increased significantly from 17.2 to 29.7% (p less than 0.01). The intensity of muscle tightness was again only significantly different between the headache and the control groups for the neck muscles (p less than 0.01). However, it was significantly higher for all three muscle groups in the headache group when headache was actually present than when headache was absent (p less than 0.001). With regard to the prevalence of muscle soreness, there were no significant differences between the headache and the control groups or within the headache group when headache was absent or present. However, the intensity of muscle soreness was significantly greater for all three muscle groups in the headache group when headache was present than when headache was absent (p less than 0.001). The results indicate significant muscular symptoms in relation to headache, particularly in relation to the neck muscles, with tightness standing out more than soreness.

Restricted opening of the mouth with an extra-articular cause in children.

Restricted opening of the mouth with an extra-articular cause (ROMEC) can have very different aetiologies. A series of 6 children, who have been operated on under 4 different diagnoses, are presented. Excluded are common problems such as recent trauma and posttraumatic scarring, craniomandibular dysfunction or elongated coronoid process, and also tumours. Problems of establishing the diagnosis, surgical treatment, postoperative physiotherapy and timing are discussed. It is shown that none of the cases is a perfect result, some outcomes are even very disappointing. It is therefore concluded that absolute trismus should be treated independently of age. The result expected will be mediocre. For final correction it is suggested that the operator should wait preferably until the second growth spurt has passed. The same goes for children presenting primarily with a mouth opening greater than 20 mm.