PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder.

PNKP gene encodes for a kinase/phosphatase involved in DNA damage response, controlled and stabilized by ATM phosphorylation. PNKP deficiency, thus far described in 40 subjects, has been associated with a complex neurological phenotype encompassing microcephaly, seizures, developmental delay, ataxia, oculomotor apraxia and polyneuropathy. We report a new case expanding the clinical phenotype of this rare disorder. This 25 years old girl presented with chorea at the age of 2 years and remained stable up to the adult age when the emergence of fatigability and asthenia of lower limbs prompted a new examination disclosing a sensory-motor axonal demyelinating neuropathy. Clinical exome sequencing revealed two previously described variants in PNKP gene. This case highlights the phenotypic variability of PNKP associated disorders, showing that an early onset apparently non progressive chorea can be the presenting symptoms of this rare condition.

Therapeutic blockade of greater occipital and supraorbital nerves in migraine patients.

A disturbance in the region of the head can provoke pain in the distribution of the trigeminal and upper cervical nerves due to a convergence of the afferent fibers of the three superior cervical roots on the neurones of the spinal nucleus of the trigeminal nerve. The therapeutic value of greater occipital and supraorbital nerve blockade in 27 patients with migraine, unresponsive to several combinations of pharmacological treatments, was investigated. Patients were given repeated anesthetic blocks, on alternate days, up to a maximum of 10 blocks. Perineural injections of 0.5 to 1.0 mL of 0.5% bupivacaine were given at the epicranial emergence points of the above nerves in relation to the distribution of the cephalic pain only if such nerves were conspicuously pain sensitive to pressure. Clinical evaluation was determined by a monthly Total Pain Index and recording of the number of migraine attacks and analgesic consumption each month. A patient was considered responsive when the Total Pain Index decreased by 50% or more in the first month after treatment. Twenty-three patients (85%) responded beneficially and maintained a favorable response for the 6-month period of observation. The treatment was considered to be of long-lasting effectiveness and without any side effects. Four patients (15%) were unresponsive to treatment. We hypothesize that the anesthetic blocks extinguished presumed foci of nociceptor discharges maintained by perivascular neurogenic inflammation, thereby reestablishing normal central neurone sensitivity. In conclusion, blockade of the supraorbital and greater occipital nerves appears to be effective in the treatment of migraine; however, controlled studies are needed to confirm these preliminary findings.

High voltage pulsed current using surface electrodes: effect on acute edema formation after hyperflexion injury in frogs.

We have repeatedly demonstrated that high voltage pulsed current (HVPC) applied via immersion technique at 120 pps and 90% of visible motor threshold curbs posttraumatic edema formation in nonhuman vertebrates. Clinically, however, HVPC is frequently applied to patients via surface electrodes. The purpose of this study was to determine whether use of HVPC with surface electrodes would also result in curbing of edema formation in nonhuman vertebrates. Ankles of 20 anesthetized frogs were sprained bilaterally. One randomly selected limb of each frog received HVPC for 30 minutes immediately after trauma, while the other limb served as a control. Limb volumes were measured before and after trauma, after treatment, and at 1-hour intervals for 4 hours. Unlike three previous experiments with cathodal HVPC, a single 30-min HVPC treatment delivered via surface electrodes did not curb edema formation. These results suggest that electrode type or position or both may be critical factors in the efficacy of HVPC in the treatment of edema in frogs. J Orthop Sports Phys Ther 1992;16(3):140-144.

Regional intravenous ketanserin and guanethidine therapy in Raynaud's phenomenon.

The authors report the results of a study of 25 patients with Raynaud's phenomenon (primary, posttraumatic, and secondary to diffuse connective tissue diseases) treated with regional intravenous injections of guanethidine or ketanserin. These two drugs were chosen because of the different etiopathologic profiles of the conditions. All the patients showed a substantial clinical improvement with a remission of trophic lesions. Conditions secondary to connective tissue disorders did not demonstrate much improvement based on instrumental data alone, possibly because of the intrinsic limitations of the techniques used for evaluating peripheral blood flow. This specific type of pharmaceutical treatment appeared to be especially suitable for this disease owing to a combination of therapeutic efficacy and a substantial reduction in the total dosage for each patient.

Analgesia with epidural calcitonin in cancer patients.

We evaluated the analgesic effect of salmon calcitonin (sCT) on 14 patients with intractable cancer pain. The drug was administered by epidural infusion (4-8 bolus administrations in 48 h); the dosage was 100 IU/48 h in 5 patients and 400 IU/48 h in 9 patients. Significant, although limited, pain relief and nocturnal pain relief were obtained; the requirement for conventional analgesic drugs was substantially reduced. The treatment was well tolerated and no side effect was recorded. However, only in 3/14 patients did pain relief result in improvement of mobility, with two patients becoming able to ambulate; no patient experienced absence of pain. In general, the treatment produced only limited benefit and subsequent morphine treatment was required in all instances. Widespread use of epidural sCT in intractable cancer pain is not justified as a routine procedure and more substantial evidence is required to support the clinical utility of such an approach.

Peripheral vascular disease: flow studies and clinical results after isovolemic hemodilution--case reports.

The authors, after a brief introduction concerning hemorheology pathophysiology, report the results of a study on 18 patients suffering from vascular disease at the second, third and fourth stage (Fontaine) who underwent isovolemic hemodilution therapy. The Travis Winsor index (evaluated by Doppler ultrasound) and the perfusion volume (evaluated by impedance rheography) were both significantly increased after treatment. In some patients such increase were also associated with a reduction of subjective symptoms.

[Treatment with total parenteral nutrition in inflammatory diseases of the intestine]. / Trattamento con N.P.T. delle malattie infiammatorie dell'intestino.

The authors present 33 cases of inflammatory diseases of the bowel (15 cases of Crohn's disease and 18 of Ulcerative Colitis) and patients are divided into 3 groups according to clinical, laboratory and pathological parameters. Also from the results obtained, they believe that T.P.N. is particolary indicated in patients of the second stage, in which T.P.N. has double function. It permits an adequate alimentation and reintegration of protein, vitamins as well as hydro-electrolytes. Allowing the intestine to rest it also repair its mucosa.

Evaluation of tolerance in long-term treatment of cancer pain with epidural morphine.

The effect of epidural morphine as a pain reliever was evaluated. A catheter was placed in the epidural space in 43 patients suffering from cancer pain related to dermatomeres of the thorax and lumbosacral region for an average period of 38 days (range 3-257 days). The daily dose of morphine hydrochloride varied from 1 to 5 mg with an average dose of 4.23 (+/- 2.4) mg. The treatment was divided into 10-day periods and for each of these periods the average daily dose relative to the total number of cases was calculated. The results showed no significant increase of the dose of epidural morphine in the first 10 decade periods. The authors concluded that pain relief treatment with equal doses maintains its effect for quite a long period of time in patients with often limited life expectancy.

[Traumatic rupture of the diaphragm (our experience)]. / Rotture traumatiche del diaframma (nostra esperienza).

The Authors report their experience about diaphragm traumatic herniae. After showing the general problematics, they study 11 cases they had the opportunity to observe: 7 acute and 4 chronic herniae, and appraise the diagnostic and therapeutical peculiarities of such pathology.

[R-(+)-alpha-methylbenzylimidazol-5-carboxylate (etomidate), a new anesthetic of ophthalmological importance]. / L'R-(+)-alfametil-benzil-imidazolo-5-carbossilato (etomidate) nuovo anestetico di interesse oftalmologico.

Data showing that a new i.v. anaesthetic, R-(+)-alphamethyl-benzyl-imidazol-5-carboxylate (Etomidate), leads to an approximately 3.3 mmHg fall in ocular pressure below the baseline are presented. The drug was also accompanied by a 14.1 mmHg and 12 beats/min decrease in A.P. and heart rate respectively. Further work on the various effects of this anaesthetic is required, since the paper is limited to its investigation in the induction stage.

[Application of hemodilution and autotransfusion in elective surgery]. / Applicazione in chirurgia di elezione della emodiluizione ed autotrasfusione.

Following careful consideration of physiopathological modifications during haemodilution, reference is made to experience with patients submitted to major surgery, mainly chest and vascular. The technique employed is preoperative normovolaemic moderate acute haemodilution. Reference is also made to the criteria for selecting patients, and the evaluation of clinical and haematochemical parameters used in applying this technique. The experience is judged to be positive and haemodilution is regarded as a useful tool for reducing the use of homologous conserved blood and for preventing the risks connected with it.

[Treatment of pain in the cancer patient]. / Il trattamento del dolore nel malato neoplastico.

Consideration is given to the problem of treating pain in the tumour patient with an examination of the methodological basis of the therapeutic approach in the light of the antalgic, pharmacological and instrumental means at present available. Consideration is also given to the need for setting up multidisciplinary structures (on the lines of the American "Pain Clinic"), which can alone ensure the full effectiveness of therapeutic treatment of "intractable" pain.

[Assessment of the surgical risk by skin tests of cell-mediated reactivity and other methods]. / Valutazione del rischio operatorio mediante tests cutanei di reattivita' cellulo-mediata e altre metodiche.

In examining some procedures of general evaluation of the operative risk the Authors direct their attention to the performance of cell-mediate reactivity skin tests and consider a set of 42 patients (of whom 11 as controls, and 31 "high risk"). The results obtained are interesting and evidence the high reliability of these tests in evaluation of infective morbidity and mortality in neoplastic and non-neoplastic patients: in fact a negative response means high morbidity and mortality while a positive response corresponds to normal surgical healing. In tumoral patients, moreover a relationship between skin tests and clinical stage of the disease is observed: negativity of the test means a terminal stage and hence absolute inoperability: positivity corresponds to an advanced stage and hence relative operability (exploratory laparatomy and thoracotomy). The Authors conclude by stressing that the tests have a practical utility and prognostic value higher than those of other methods.