Acquired-Transient Factor X Deficiency in a Teenager with Extensive Burns

Acquired factor X deficiency is an extremely rare situation. It has shown to be associated with systemic amyloidosis, respiratory mycoplasma infection, factor X inhibitors, antiphospholipid antibodies, vitamin K defi ciency/liver disease as well as the use of certain medications (meropenem, valproic acid). The pathogenesis and transient nature of this deficit remain poorly understood. The authors describe the case of a teenager hospitalised for extensive burns that developed active bleeding after removal of central venous catheter. He was diagnosed with transient factor X deficiency. Normalisation of coagulation status and factor X levels occurred spontaneously 10 days after the bleeding episode.

Acquired form of angioedema of the head and neck related to a deficiency in c1-inhibitor: a case report with a review of the literature.

Angioedema related to a deficiency in the C1-inhibitor protein is characterized by its lack of response to therapies including antihistamine, steroids, and epinephrine. In the case of laryngeal edema, mortality rate is approximately 30 percent. The first case of the acquired form of angioedema related to a deficiency in C1-inhibitor was published in 1972. In our paper, we present a case of an acquired form of angioedema of the oropharyngeal region secondary to the simultaneous occurrence of two causative factors: neutralization of C1-inhibitor by an autoantibody and the use of an angiotensin convertin enzyme inhibitor.

TAP deficiency syndrome: chronic rhinosinusitis and conductive hearing loss

Nose-ear-throat manifestations of immunodeficiency disorders represent a diagnostic challenge for clinicians as these diseases often constitute the initial sign for connective disorders or autoimmune disease. The history of chronic rhinosinusitis and conductive hearing loss is often non specific. Therefore attention to an HLA class I deficiency must be considered if the disease has not been diagnosed on routine examination. One of the syndromes is due to a defective TAP complex, the peptide transporter complex associated with antigen presentation. Herein, we report two sisters with TAP-deficiency. The treatment of choice for TAP-deficient patients is conservative.

Urgent supplemental appropriations for 1935 : hearing before the subcommittee of House Committee on Appropriations in charge of deficiency appropriations. Seventy-fourth Congress, first session. Federal Communications Commission, National Mediation Board, National Railroad Adjustment Board, Securities and Exchange Commission.

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Prasugrel and Acquired Thrombotic Thrombocytopenic Purpura Associated with ADAMTS13 Activity Deficiency

We report a case of a 64-year-old male who, 44 days after starting treatment with prasugrel, presented with severe thrombocytopenia, anemia, renal failure, and severe ADAMTS13 activity deficiency, along with a high titer of autoantibodies to this protease.

Development of a digital hearing aid to meet the Brazilian Government`s Ordinance 587 (APAC) - Health Department

The treatment of sensorineural hearing loss is based on hearing aids, also known as individual sound amplification devices. The hearing aids purchased by the Brazilian Government, aiming at fulfilling public policies, are based on dedicated components, which bring about benefits, but also render them expensive and may impair repair services after manufacture`s warranty expires. Aim: to design digital behind-the-ear hearing aids built from standardized components coming from the very supply chain of these manufacturers. Study design: experimental. Materials and Methods: to identify the supply chain of these manufacturers, request samples and set up hearing aids in the laboratory. Results: The developed hearing aids did not show lesser electroacoustic characteristics when compared to those acquired by the Government, also being tested by the same reference international technical standard. Conclusion: It is possible to develop digital behind-the-ear hearing aids based on off-the-shelf components from hearing aid manufacturers` supply chain. Their advantages include low operational costs - for acquisition (with clear advantages for the Government) and service (advantage for the patient).

Acquired central diabetes insipidus in children: A 12 year Brisbane experience

Objective: To study the clinical, endocrine and radiological features and progress of children presenting with acquired diabetes insipidus (CDI). Methodology: Chart review of children presenting because of CDI to Brisbane paediatric endocrine clinics between 1987 and 1999. Results: Thirty-nine children (female/male ratio 21/18) aged 0.1-15.4 years (mean age 6.7 years) were identified. Aetiologies were head trauma or familial in eight cases (20.5%) each, central nervous system (CNS) tumours in five cases (12.8%), CNS malformations in four cases (10.2%), histiocytosis in three cases (7%) and hypoxia and infection in two cases (5.1%) each. Seven cases (17.9%) remain undiagnosed. Of the 32 (82%) cases with isolated anti-diuretic hormone deficiency at presentation, 24 cases (61.5%) experienced no further endocrine deficit. Additional endocrine deficits occurred mainly in the tumour or undiagnosed groups. On follow-up brain magnetic resonance imaging (MRI) scans in the seven undiagnosed cases, six patients bad mild or no change and one patient had marked improvement of MRI findings. These changes occurred 10-48 months (mean 18 months) after presentation. Conclusions: Children without an aetiological diagnosis for the uncommon condition of acquired CDI require careful follow-up. More intensive investigation at presentation (e.g. estimation of cerebrospinal fluid human chorionic gonadotrophin) promises to lessen the number of such cases. Pituitary stalk biopsies should be reserved for those patients with progressive MRI changes. If these changes do not occur early, our experience suggests that follow-up MRI scans may need to be performed only yearly.

Dynamic assessment of tongue function in children with dysarthria associated with acquired brain injury using electromagnetic articulography

The study to be presented is the first to use a new physiological device, the electromagnetic articulograph, to assess articulatory dysfunction in children with acquired brain injury. Two children with dysarthria subsequent to acquired brain injury participated in the study. One child, a female aged 12 years 9 months exhibited a mild-moderate ataxic dysarthria following traumatic head injury while the other, a male aged 13 years 10 months, demonstrated a moderate-severe flaccid-ataxic dysarthria also following traumatic head injury. The speed and accuracy of their tongue movements was assessed using the Carstens AG100 electromagnetic articulograph. Movement trajectories together with a range of quantitative kinematic parameters were estimated during performance of ten repetitions of the lingual consonants /t, s, k/ and consonant cluster /kl/ in the word initial position of single syllable words. A group of ten non-neurologically impaired children served as controls. Examination of the kinematic parameters, including movement trajectories, velocity, acceleration, deceleration, distance travelled and duration of movement, revealed differences in the speed and accuracy of the tongue movements in both children with acquired brain injury compared to those produced by the non-neurologically impaired controls. The results are discussed in relation to contemporary theories of the effects of acquired brain injury on neuromuscular function. The implications of the findings for the treatment of articulatory dysfunction in children with motor speech disorders associated with acquired brain injury are highlighted.

Sulfite Oxidase Deficiency – An Unusual Late and Mild Presentation

Introduction: Sulfite oxidase deficiency (SOD) is an autosomal recessive inherited disease usually presenting in the neonatal period with severe neurological symptoms including seizures, often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy resembling neonatal hypoxic ischemia, with premature death. Most patients develop dislocated ocular lenses. Later or milder presentations of SOD are being reported with increasing frequency. These presentations include neurological regression with loss of previously acquired milestones or movement disorders. Case report: We report a four years old girl presenting with intermittent ataxia and uncoordinated limb movements. A similar episode of ataxia had occurred previously, one year before, with complete neurologic recovery and normal developmental milestones. Bilateral lens dislocation had been recently diagnosed. Cranial MRI demonstrated bilateral globus pallidus enhancement. Low homocysteine was found in plasma and SulfitestR was positive. Further investigations led to confirmation of isolated sulfite oxidase deficiency with no enzyme activity detected on skin fibroblasts culture. Discussion: This case illustrates the clinical variability of SOD and it is not only atypical but also seems to be the mildest form described so far. The association of ectopia lentis with a movement disorder, even without psychomotor regression, should prompt us to look for this diagnosis.

PROP1 Gene Analysis in Portuguese Patients with Combined Pituitary Hormone Deficiency

OBJECTIVE: Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH. This study was undertaken to investigate the molecular defect in a cohort of patients with CPHD. DESIGN, PATIENTS AND MEASUREMENTS: A multicentric study involving 46 cases of CPHD (17 familial cases belonging to seven kindreds and 29 sporadic cases) selected on the basis of clinical and hormonal evidence of GH deficiency, central hypothyroidism and hypogonadotrophic hypogonadism, in the absence of an identified cause of hypopituitarism. Mutations of PROP1 were investigated by DNA sequencing. Clinical, hormonal and neuroradiological data were collected at each centre. RESULTS: PROP1 mutations were identified in all familial cases: five kindreds presented a c. 301-302delAG mutation, one kindred presented a c. 358C --> T (R120C) mutation and one presented a previously unreported initiation codon mutation, c. 2T --> C. Of the 29 sporadic cases, only two (6.9%) presented PROP1 germline mutations (c. 301-302delAG, in both). Phenotypic variability was observed among patients with the same mutations, particularly the presence and age of onset of hypocortisolism, the levels of PRL and the results of pituitary imaging. One patient presented a sellar mass that persisted into adulthood. CONCLUSIONS: This is the first report of a mutation in the initiation codon of the PROP1 gene and this further expands the spectrum of known mutations responsible for CPHD. The low mutation frequency observed in sporadic cases may be due to the involvement of other unidentified acquired or genetic causes.

Myelopathy and adult T-cell leukemia associated with HTLV-1 in a young patient with hearing loss as the initial manifestation of disease

A young male developed hearing loss, vertigo, headache and facial palsy. Neurological examination did not show any abnormalities. Two years later, cervical lymphadenopathy, hepatosplenomegaly and atypical lymphocytes in peripheral blood revealed leukemia. At the same time, acquired ichthyosis was observed. Subsequently, neurological abnormalities revealed myelopathy associated with HTLV-1, due to vertical transmission.

Validation of diagnosis criteria for acquired sensory neuronopathy. a francophone multicenter study

Recently published criteria using clinical (ataxia or asymmetrical distribution at onset or full development, and sensory loss not restricted to the lower limbs) and electrophysiological items (less than two abnormal lower limb motor nerves and at least an abolished SAP or three SAP below 30% of lower limit of normal in the upper limbs) were sensitive and specific for the diagnosis of sensory neuronopathy (SNN) (Camdessanche et al., Brain, 2009). However, these criteria need to be validated on a large multicenter population. For this, a database collecting cases from fifteen Reference Centers for Neuromuscular diseases in France and Switzerland is currently developed. So far, data from 120 patients with clinically pure sensory neuropathy have been collected. Cases were classified independently from the evaluated criteria as SNN (53), non-SNN (46) or suspected SNN (21) according to the expert's diagnosis. Using the criteria, SNN was possible in 83% (44/53), 23.9% (11/46) and 71.4% (15/21) of cases, respectively. In the non-SSN group, half of the patients with a diagnosis of possible SSN had an ataxic form of inflammatory demyelinating neuropathy. In the SNN group, half of those not retained as possible SNN had CANOMAD, paraneoplasia, or B12 deficiency. In a second step, after application of the items necessary to reach the level of probable SNN (no biological or electrophysiological abnormalities excluding SNN; presence of onconeural antibody, cisplatin treatment, Sj ¨ ogren's syndrome or spinal cord MRI high signal in the posterior column), a final diagnosis of possible or probable SNN was obtained in, respectively, 90.6% (48/53), 8.8% (4/45), and 71.4% (15/21) of patients in the three groups. Among the 5 patients with a final non-SNN but initial SNN diagnosis, 3 had motor conduction abnormalities (one with CANOMAD) and among the 4 patients with a final SNN but initial non-SSN diagnosis, one had anti-Hu antibody and one was discussed as a possible ataxic CIDP. These preliminary results confirm the sensitivity and specificity of the proposed criteria for the diagnosis of SNN.

BAPNE method and N eurorehabilitation in patients with severe acquired brain injury

The use of body percussion through BAPNE method in neurorehabilitation offers the possibility of studying the development of motor skills, attention, coordination, memory and social interaction of patients with neurological diseases. The experimental protocol was carried out on 52 patients with severe acquired brain injury. Patients were selected for the cut - off scores in the standard neuropsychologic al tests of sustained attention , divided and alert ; at least one emisoma intact, cut -off scores in the standard for procedural and semantic memory ; eye sight , hearing and speech intact. The first group of patients has supported the protocol BAPNE tougher with the traditional rehabilitation activities . The control group continued to perform exclusively the cognitive and neuromotor rehabilitation according to traditional protocols. At 6 months after administration of the protocol is expected to re-test to assess if present , the maintenance of the effects of rehabilitation obtained. Experimentation is carried out for 10 weeks following the protocol of BAPNE method in the Roboris Foundation of Rome.