Report of a 6-month-old Asian infant with early infantile epileptic encephalopathy whose seizures were eliminated by cannabidiol.

We observed that cannabidiol supplements were highly effective in treating an infant boy with drug-resistant early infantile epileptic encephalopathy, eliminating his intractable tonic seizures. The infant began suffering clusters of brief tonic seizures from birth at 39 weeks gestation. EEG showed burst-suppression and seizures could not be controlled by trials of phenobarbital, zonisamide, vitamin B6, clobazam, levetiracetam, topiramate, phenytoin, valproate, high-dose phenobarbital, and ACTH therapy. The boy was discharged from hospital at 130 days of age still averaging tonic seizures 20-30 times per day. We started him on a cannabidiol supplement on day 207, increasing the dosage to 18 mg/kg/d on day 219. His seizures reduced in frequency and completely disappeared by day 234. These effects were maintained, with improved EEG background, even after his other medications were discontinued. Cannabidiol's effectiveness in treating drug-resistant epilepsy has been confirmed in large-scale clinical trials in Europe and the United States; however, no such trials have been run in Asia. In addition, no reports to date have documented its efficacy in an infant as young as six months of age. This important case suggests that high-dose artisanal cannabidiol may effectively treat drug-resistant epilepsy in patients without access to pharmaceutical-grade CBD.

Component-resolved diagnostics can be useful for identifying hazelnut allergy in Japanese children.

BACKGROUND: Cor a 9 and Cor a 14 are effective markers for predicting hazelnut allergy. However, there have been no reports on the component-resolved diagnostics (CRD) of hazelnut allergy using an oral food challenge (OFC) for diagnosis in Asia. We hypothesized that CRD would improve the accuracy of diagnosing hazelnut allergies in Japanese children. METHODS: We recruited 91 subjects (median age: 7.3 years) who were sensitized to hazelnuts and had performed a hazelnut OFC at the National Hospital Organization Sagamihara National Hospital between 2006 and 2017. All subjects were classified as allergic or asymptomatic to 3 g of hazelnuts. The sIgE levels (hazelnut/Cor a 1/Cor a 8/Cor a 9/Cor a 14/alder pollen) were measured using ImmunoCAP. We aimed to determine the predictive factors of hazelnut allergy. RESULTS: Nine subjects (10%) were allergic to ≤3 g of hazelnuts. Levels of sIgE for Cor a 9 in hazelnut-allergic subjects were significantly higher than those in asymptomatic subjects (4.47 vs. 0.76 kUA/L, p = 0.039). Levels of sIgE to alder pollen and Cor a 1 in hazelnut-allergic subjects were significantly lower than those in asymptomatic subjects (<0.10 vs 13.0 kUA/L, p = 0.004; <0.10 vs 5.03 kUA/L, p = 0.025). The area under the receiver operating characteristics curve for hazelnut/alder/Cor a 1/Cor a 9 was 0.55/0.78/0.72/0.71, respectively, with p = 0.651/0.006/0.029/0.040, respectively. CONCLUSIONS: The findings of a high sIgE level for Cor a 9 and a low sIgE level for Cor a 1 can improve the diagnostic accuracy to better identify Japanese children sensitized to hazelnuts.

A new method for estimating time since death by analysis of substances deposited on the surface of dental enamel in a body immersed in seawater.

The present investigation was performed with the objective of developing a method to estimate how long a corpse had been immersed in water after death (the time since death). Accurate determination of the time elapsed since death may lead to identification of the place of drowning, and therefore, serves not only as a piece of information useful for determination of the cause of death but also leads to prompt identification of the body. The results showed that diatoms attached to the surface of dental enamel increased with prolongation of immersion time in water. Further, as the immersion time increased, the quantity of O, Si, Mg, K, Al, and S detected on the surface of dental enamel increased, while the quantity of the main dental components (Ca and P) that were detected gradually decreased. Based on these results, we calculated a regression formula to estimate the immersion time. Our method is considered to be a breakthrough technique for evaluating the time since death more objectively, compared to the conventional method of determination based on the degree of decomposition of the corpse.

Concentration homeostasis and elements in hair and dried serum observed by X-ray fluorescence analysis using synchrotron radiation.

Elemental concentrations in hair and dried serum have been evaluated by X-ray fluorescence analysis using relative concentration independent of specimen thickness. Dried serum samples from 5 male and 5 female subjects given two-week Ca supplementation showed the same concentration for Ca, and for each of the other elements Cl, K, S and P under renal control by parathyroid hormone (PTH). Hair concentrations of these elements have been evaluated for 50 randomly-selected females aged between 30 and 80. It was found that each element has two distinct levels in hair. The content of an element in growing hair must be equal to the inflow of that element into the hair-making cells from serum. Using this principle, the two levels can be attributed to the gating and closing of the ion channels in cell membranes and given as functions of the dried serum standard concentrations. Especially, the difference between [Ca] and [Sr] in hair shows whether Ca channels are gating or closing. The lower level of hair [Ca]_H is normal and is equal to 1/2 of the dried serum [Ca]; only the Ca on serum protein is to be incorporated into the hair in steady-state growth. Store-operated Ca channel gating occurs so as to maintain the normal [Ca]_H. The higher level is seen in cases of calcium deficiency, and implicated in other disease states. Prolonged Ca deficiency causes a higher hair [Ca]_H with Ca channel closing. PTH-operated Ca channel gating induces the Ca^{2+} inflow into the cells to form the hair [Ca]_H upper level and to deteriorate cell functions such as excretion of excess metals by hepatocytes. Hair analysis provides a new diagnostic tool based on cell ion channels.

A case of Pallister-Killian syndrome associated with West syndrome.

We report the case of a 19-month-old boy with Pallister-Killian syndrome associated with West syndrome. The child was born at term to a healthy mother after an uneventful pregnancy. He was born by cesarean section because of fetal macrosomia. He was observed to have nystagmus, craniofacial dysmorphism, and mental retardation. Intractable epileptic spasms developed 17 months after birth, and electroencephalography revealed a modified hypsarrhythmia. The seizures were uncontrollable with sodium valproate monotherapy. At the age of 19 months, the child was diagnosed with Pallister-Killian syndrome of mosaic tetrasomy 12p by fluorescence in situ hybridization. Combination treatment with high-dose pyridoxal phosphate and sodium valproate eliminated seizures and improved the electroencephalographic abnormalities. To our knowledge, this is the first reported case of Pallister-Killian syndrome associated with West syndrome.

Crystal structures and 77Se NMR spectra of molybdenum(IV) areneselenolates having intramolecular NH...Se hydrogen bonds.

Salts of the monooxomolybdenum(IV,V) areneselenolates having intramolecular NH...Se hydrogen bonds, [Mo(IV)O(Se-2-RCONHC6H4)4]2- (R = t-Bu, CH3, CF3) and [Mo(V)O(Se-2-t-BuCONHC6H4)4]-, were synthesized and characterized by 1H nuclear magnetic resonance (NMR), 77Se NMR, electron spin resonance (ESR), UV-visible spectra, X-ray analysis, and electrochemical measurements. 77Se-1H correlated spectroscopy (COSY) indicated a significant correlation between amide 1H and selenolate 77Se atoms through an NH...Se hydrogen bond with 1J(77Se-1H) = 5.4 Hz coupling. The hydrogen bonds contribute to the positive shift in the Mo(V)/Mo(IV) redox potential. In the crystal structure of (PPh4)2[Mo(IV)O(Se-2-CH3CONHC6H4)4], an NH...O=Mo hydrogen bond was found. Ab inito calculations support the presence of intramolecular NH...O=Mo and NH...Se hydrogen bonds.

[A long term survival case of advanced colon cancer with adjacent organ involvement and multiple liver metastases].

We report a long-term survival case of advanced colon cancer with adjacent organ involvement and multiple liver metastases. A 50-year-old man was admitted to our hospital because of occult bloody feces. An advanced colon cancer of the cecum was found with a colonoscopy. Histopathologically, it was a moderately differentiated adenocarcinoma with a biopsy examination. Abdominal CT showed advanced colon cancer with adjacent organ involvement and multiple liver metastases. He received right hemi-colon resection and right hepatic lobectomy. The patient was followed by 8 courses of adjuvant chemotherapy with 5-FU. He has been doing well without any recurrence for five years and six months after the operation. Usually the prognoses of Stage IV colorectal cancer patients are very unpleasant. Even thougn a few patients with Stage IV colorectal cancer can be a long-term survivor after multiple operations, we need to consider carefully the indication of the operation and QOL for a Stage IV colorectal cancer patient.

A successful treatment with pyridoxal phosphate for West syndrome in hypophosphatasia.

We report a 2-month-old male with West syndrome associated with infantile hypophosphatasia. The male infant was born at term to a healthy mother after an uneventful pregnancy. He was born by cesarean section because of breech presentation. He was observed to have short extremities, and radiographs were consistent with achondroplasia. The serum alkaline phosphatase level was 2 IU/dL. Intractable tonic seizures developed 2 days after birth, and an electroencephalogram revealed a burst-suppression pattern for the first 2 months of life. The seizures were uncontrollable with conventional antiepileptic drugs. At the age of 2 months, he had a series of infantile spasms, and the electroencephalogram indicated hypsarrhythmia. Treatment with high-dose pyridoxal phosphate eliminated his seizures.

[A report of two cases--two patients of the extremely advanced hepatocellular carcinoma have responded completely for a long time after a combination therapy consisting of arterial chemotherapy and injection of interferon-alpha].

The prognosis of advanced hepatocellular carcinoma (HCC) is extremely poor. Patient 1 was a 43-year-old male with major portal tumor thrombi. He received combination therapy consisting of continuous arterial infusion (MTX 30 mg/m2, day 1, CDDP/5-FU 6 mg/m2: 250 mg/m2, day 1-14) and subcutaneous injection of IFN-alpha (500 x 10(4) U, 3 times a week, 4 weeks). Patient 2 was a 66-year-old male with major hepatic venous tumor thrombi. He received combination therapy consisting of continuous arterial infusion (5-FU 6 mg/m2: 250 mg/m2, day 1-14) and subcutaneous injection of IFN-alpha (500 x 10(4) U, 3 times a week, 4 weeks). Decrease in tumor was observed in both patients markers and marked regression of tumor was observed in both patients. They are still in complete response. This combination therapy is an effective strategy for advanced HCC.